|
|
|
S13 |
R2A |
Arg2Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E3A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
S13 |
R2G |
Arg2Gly |
P04350.2 (TUBB4A) |
H. sapiens |
With S316F, dystonia and ataxic gait |
Lohmann et al. 2013. Ann Neurol 73:537-45, Hersheson et al. 2013. Ann Neurol 73:546-53 |
Homo sapiens, human |
|
|
|
|
S13 |
R2H |
Arg2His |
XP_022264614.1 |
C. familiaris |
Macrothrombocytopenia |
Gelain et al. 2014. Vet Clin Pathol 43:317-21 |
Canis familiaris, dog |
|
|
|
|
S13 |
R2K |
Arg2Lys |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. N Engl J Med 374:223-32 |
Homo sapiens, human |
|
|
|
|
S13 |
R2Q |
Arg2Gln |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination, basal ganglia and cerebellum atrophy (H-ABC) |
Hamilton et al. 2014. Brain 137:1921-30, Miyatake et al. 2014. Neurology 82:2230-7 |
Homo sapiens, human |
|
|
|
|
S13 |
R2W |
Arg2Trp |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination, basal ganglia and cerebellum atrophy (H-ABC) |
Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
|
S13 |
E3A |
Glu3Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R2A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
S13 |
E3D |
Glu3Asp |
NP_524290.2 (B2tD) |
D. melanogaster |
Intragenic suppressor of B2tD allele (Glu194Lys) |
Fackenthal et al. 1995. Genetics 139:267-86 |
Drosophila melanogaster, fruit fly |
|
|
|
|
S13 |
E3G |
Glu3Gly |
NP_035785.1 (Tubb5) |
M. musculus |
R6384:Tubb5, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S15 |
S13 |
H6L |
His6Leu |
NP_524290.2 (B2tD) |
A. nidulans |
Benomyl resistant |
Jung et al. 1992. Cell Motil Cytoskeleton 22:170-4 |
Aspergillus nidulans, fungus |
|
|
|
S15 |
S13 |
H6Q |
His6Gln |
J9W1R2 |
C. neoformans |
Benzimidazole resistant |
Cruz et al. 1997. Microbiology 143:2003-8 |
Cryptococcus neoformans, yeast, fungus |
|
|
|
S15 |
S13 |
H6Y |
His6Tyr |
NP_524290.2 (B2tD) |
A. nidulans |
Benomyl resistant |
Jung et al. 1992. Cell Motil Cytoskeleton 22:170-4 |
Aspergillus nidulans, fungus |
|
|
|
S15 |
S13 |
H6Y |
His6Tyr |
Q7Z7U2 |
M. fructicola |
Benzimidazole resistant |
Ma et al. 2003. Appl Environ Microbiol 69:7145-52 |
Monilinia fructicola, fungus |
|
|
|
S15 |
S13 |
H6Y |
His6Tyr |
AAB25800.1 |
S. nodorum |
Benomyl resistant (aka Parastagonospora nodorum) |
Cooley and Caten. 1993. Mol Gen Genet 237:58-64 |
Stagonospora nodorum, Parastagonospora nodorum, fungus |
|
|
|
|
H12 |
C12A |
Cys12Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
No phenotype |
Gupta et al. 2001. Cell Motil Cytoskeleton 49:67-77 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H12 |
C12S |
Cys12Ser |
NP_116616.1 (TUB2) |
S. cerevisiae |
Lethal mutation |
Gupta et al. 2001. Cell Motil Cytoskeleton 49:67-77 |
Saccharomyces cerevisiae, yeast |
|
|
|
H12 |
H12 |
G13A |
Gly13Ala |
Q9BVA1 (TUBB2B) |
H. sapiens |
Cerebellar dysplasia |
Oegema et al. 2015. Hum Mol Genet 24:5213-25 |
Homo sapiens, human |
|
|
|
H12 |
H12 |
Q15K |
Gln15Lys |
BAC54932.1 (M40) |
H. sapiens |
Circumferential Skin Creases Kunze Type |
Isrie et al. 2015. Am J Hum Genet. 97:790-800 |
Homo sapiens, human |
|
|
|
H12 |
H12 |
Q15K |
Gln15Lys |
NP_001280141.1 (TUBB1) |
H. sapiens |
Microcephaly phenotypes, TUBB5 |
Madrigal et al. 2019. Gene 19:30101-5 |
Homo sapiens, human |
|
|
|
H12 |
H12 |
A18P |
Ala18Pro |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of G142S β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
H12 |
H12 |
A19K |
Ala19Lys |
NP_116616.1 (TUB2) |
S. cerevisiae |
Required for Taxol binding |
Gupta et al. 2003. Proc Natl Acad Sci USA 100:6394-7 |
Saccharomyces cerevisiae, yeast |
|
|
|
H12 |
H12 |
E22A |
Glu22Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E27A and D31A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H12 |
H12 |
T23V |
Thr23Val |
NP_116616.1 (TUB2) |
S. cerevisiae |
Required for Taxol binding |
Gupta et al. 2003. Proc Natl Acad Sci USA 100:6394-7 |
Saccharomyces cerevisiae, yeast |
|
|
|
H12 |
H12 |
I24V |
Ile24Val |
NP_001074440.1 (Tubb1) |
M. musculus |
IGL02534:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H12 |
H12 |
C25A |
Cys25Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Benomyl supersensitive |
Gupta et al. 2001. Cell Motil Cytoskeleton 49:67-77 |
Saccharomyces cerevisiae, yeast |
|
|
|
H12 |
H12 |
C25S |
Cys25Ser |
NP_116616.1 (TUB2) |
S. cerevisiae |
Benomyl supersensitive |
Gupta et al. 2001. Cell Motil Cytoskeleton 49:67-77 |
Saccharomyces cerevisiae, yeast |
|
|
|
H12 |
H12 |
S25F |
Ser25Phe |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, mild semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H12 |
H12 |
S25L |
Ser25Leu |
NP_524290.2 (B2tD) |
D. melanogaster |
B2t mutation, testes specific tubulin |
Fackenthal et al. 1995. Genetics 139:267-86 |
Drosophila melanogaster, fruit fly |
|
|
|
H12 |
H12 |
S25N |
Ser25Asn |
NP_110400.1 (TUBB1) |
H. sapiens |
2-methoxyestradiol resistant |
Liaw et al. 2008. Mol Cancer Ther 7:3150-9 |
Homo sapiens, human |
|
|
|
H12 |
H12 |
D26E |
Asp26Glu |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H12 |
H12 |
G26D |
Gly26Asp |
NP_116616.1 (TUB2) |
S. cerevisiae |
Required for Taxol binding |
Gupta et al. 2003. Proc Natl Acad Sci USA 100:6394-7 |
Saccharomyces cerevisiae, yeast |
|
|
|
H12 |
H12 |
N26E |
Asn26Glu |
NP_110400.1 (TUBB1) |
H. sapiens |
Paclitaxel resistant, correlation |
Hari et al. 2006. Mol Cancer Ther 5:270-8 |
Homo sapiens, human |
|
|
|
|
H12 |
E27A |
Glu27Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E22A and D31A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H12-S16 |
H12-S14 |
ΔE27-A33 |
ΔGlu27-Ala33 |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. J Med Genet 53:662-71 |
Homo sapiens, human |
|
|
|
S16 |
S14 |
D31A |
Asp31Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E22A and E27A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S16 |
S14 |
D31V |
Asp31Val |
NP_001074440.1 (Tubb1) |
M. musculus |
R1969:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
T33S |
Thr33Ser |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal, low grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T35N mutation |
|
|
S17 |
S15 |
G34S |
Gly34Ser |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, mild recessive |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S17 |
S15 |
G34S |
Gly34Ser |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of F52Y β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
S17 |
S15 |
V34M |
Val34Met |
NP_116616.1 (TUB2) |
S. cerevisiae |
Cold sensitive microtubules |
Pasqualone et al. 1994. J Cell Biol 127:1973-84 |
Saccharomyces cerevisiae, yeast |
|
|
|
S17 |
S15 |
T35N |
Thr35Asn |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal, low grade breast cancer, taxane-treated, also contains T33S mutation |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T33S mutation |
|
|
S17 |
S15 |
Q37Q* |
Gln37 |
AAG15328.1 |
C. rastrospinosus |
Cold stability, CrTbB2 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Chionodraco rastrospinosus, extremophile, icefish |
|
|
|
S17 |
S15 |
Q37Q* |
Gln37 |
AAG15315.1 |
N. coriiceps |
Cold stability, NcTbB2 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Notothenia coriiceps, extremophile, icefish |
|
|
|
S17 |
S15 |
Q37Q* |
Gln37 |
AAG15317.1 |
N. coriiceps |
Cold stability, NcTbB4 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Notothenia coriiceps, extremophile, icefish |
|
|
|
S17 |
|
G38E |
Gly38Glu |
NP_509313.1 (MEC-7) |
C. elegans |
No defects |
Freson et al. 2005. Blood 106:2356-62, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S17 |
|
G38W |
Gly38Trp |
NP_033477.2 (Tubb4a) |
M. musculus |
R2440:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S17 |
|
R38R* |
Arg38 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
|
|
D39G |
Asp39Gly |
AAB18929.1 |
C. griseus |
With F85L, paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
D40A |
Asp40Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D41A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D41A |
Asp41Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D40A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
Q42Q* |
Gln42 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
|
|
Q42Q* |
Gln42 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
|
|
Q43P |
Gln43Pro |
NP_110400.1 (TUBB1) |
H. sapiens |
Macrothrombocytopenia, disproven? |
Kunishima et al. 2009. Blood 113:458-61 |
Homo sapiens, human |
|
|
|
|
|
K44A |
Lys44Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E45A and R46A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
L44P |
Leu44Pro |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains S275A, A315T, N332A, V333I, N335S, T351V, A365S, and Q292R mutations |
|
|
|
|
D45Y |
Asp45Tyr |
AAB18929.1 |
C. griseus |
Colcimid and vinblastine resistant (CHO cells) |
Hari et al. 2003. Mol Cancer Therap 2:597-605, Wang et al. 2004. Biochemistry 43:8965-73 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
E45A |
Glu45Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K44A and R46A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
E45D |
Glu45Asp |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N48S, V64I, V170M, C201S, A296S, and V316I mutations |
|
|
|
|
E45D |
Glu45Asp |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains V316I, N48S, V64I, V170M, C201S, and A296S mutations |
|
|
|
|
E45D |
Glu45Asp |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive lobular, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N48S and V64I mutations |
|
|
|
|
E45V |
Glu45Val |
NP_001074440.1 (Tubb1) |
M. musculus |
R4249:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
R46A |
Arg46Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K44A and E45A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
N48S |
Asn48Ser |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains E45D, V64I, V170M, C201S, A296S, and V316I mutations |
|
|
|
|
N48S |
Asn48Ser |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains V316I, E45D, V64I, V170M, C201S, and A296S mutations |
|
|
|
|
N48S |
Asn48Ser |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive lobular, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains V64I and E45D mutations |
|
|
S18 |
S16 |
D50Y |
Asp50Tyr |
AGL95857.1 |
F. moniliforme |
Benomyl resistant, cold sensitive |
Yan and Dickman. 1996. Appl Environ Microbiol 62:3053-6 |
Fusarium moniliforme, fungus |
|
|
|
S18 |
S16 |
Y50C |
Tyr50Cys |
AAP68979.1 (β2) |
G. zeae |
Carbendazim resistant, (aka F. graminearum) |
Qiu et al. 2011. Pest Man Sci 67:191-8 |
Gibberella zeae, Fusarium graminearum, fungus |
|
|
|
S18 |
S16 |
I52I* |
Ile52 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
S18 |
S16 |
N52K |
Asn52Lys |
NP_035785.1 (Tubb5) |
M. musculus |
R1666:Tubb5, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S18 |
S16 |
E53K |
Glu53Lys |
NP_001074440.1 (Tubb1) |
M. musculus |
R0939:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S18 |
S16 |
C55C* |
Cys55 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
S19 |
|
G56D |
Gly56Asp |
NP_524290.2 (B2tD) |
D. melanogaster |
B2t mutation, testes specific tubulin |
Fackenthal et al. 1995. Genetics 139:267-86 |
Drosophila melanogaster, fruit fly |
|
|
|
S19 |
|
Q56Q* |
Gln56 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
S19 |
|
R56R* |
Arg56 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
S19 |
|
T56T* |
Thr56 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
S19 |
|
T56T* |
Thr56 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
S19 |
S17 |
K58A |
Lys58Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R62A, cold sensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S19 |
S17 |
V60A |
Val60Ala |
AAB18929.1 |
C. griseus |
Paclitaxel resistant, with E376G paclitaxel resistant, suppressor of Asp45Tyr mutation/paclitaxel hypersensitive (CHO cells) |
Wang et al. 2004. Biochemistry 43:8965-73, Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
S19 |
S17 |
V60F |
Val60Phe |
NP_110400.1 (TUBB1) |
H. sapiens |
A549 human lung carcinoma cell line EpoB step up selection |
Yang et al. 2005. Mol Cancer Ther 4:987-95 |
Homo sapiens, human |
|
|
|
S19 |
S17 |
P61A |
Pro61Ala |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of G142S β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
S19 |
S17 |
P61L |
Pro61Leu |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S19 |
S17 |
P61S |
Pro61Ser |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S19 |
S17 |
R62A |
Arg62Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K58A, cold sensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S19 |
S17 |
R62Q |
Arg62Gln |
AAH03021.2 (TUBB3) |
H. sapiens |
Extraocular congenital fibrosis syndrome (CFEOM3) |
Tischfield et al. 2010. Cell 140:74-87 |
Homo sapiens, human |
|
|
|
S19 |
S18 |
V64I |
Val64Ile |
NP_509313.1 (MEC-7) |
C. elegans |
No defects |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S19 |
S18 |
V64I |
Val64Ile |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains V316I, N48S, E45D, V170M, C201S, and A296S mutations |
|
|
S19 |
S18 |
V64I |
Val64Ile |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N48S, E45D, V170M, C201S, A296S, and V316I mutations |
|
|
S19 |
S18 |
V64I |
Val64Ile |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive lobular, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N48S and E45D mutations |
|
|
S20 |
S18 |
V66A |
Val66Ala |
NP_033477.2 (Tubb4a) |
M. musculus |
IGL00956:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S20 |
S18 |
D67A |
Asp67Ala |
NP_001074440.1 (Tubb1) |
M. musculus |
R1658:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S20 |
S18 |
D67A |
Asp67Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E69A, wild-type; with E69A and G71W, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S20 |
S18 |
D67N |
Asp67Asn |
CAA23687.1 (β2) |
G. gallus |
GTP binding site mutation |
Farr and Sternlicht. 1992. J Mol Biol 227:307-21 |
Gallus gallus, red junglefowl, chicken, bird |
|
|
|
|
S18 |
E69A |
Glu69Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E67A, wild-type; with E67A and G71W, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
S18 |
E69Q |
Glu69Gln |
CAA23687.1 (β2) |
G. gallus |
GTP binding site mutation |
Farr and Sternlicht. 1992. J Mol Biol 227:307-21 |
Gallus gallus, red junglefowl, chicken, bird |
|
|
|
|
H13 |
G71W |
Gly71Trp |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D67A and E69A, wild-type; with D74A and R77A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H13 |
T72A |
Thr72Ala |
NP_080749.2 (Tubb6) |
M. musculus |
R3784:Tubb6, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
H13 |
Q73R |
Gln73Arg |
AAP68979.1 |
G. zeae |
Benzimidazole resistant (aka F. graminearum) |
Chen et al. 2009. Phytopathology 99:1403-11 |
Gibberella zeae, Fusarium graminearum, fungus |
|
|
|
|
H13 |
D74A |
Asp74Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With G71W and R77A, recessive lethal; with R77A, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H13 |
F76V |
Phe76Val |
AAA29170.1 |
H. contortus |
Associated with benzimidazole resistant |
Kwa et al. 1994. Mol Biochem Parasitol 63:299-303 |
Haemonchus contortus, nematode, barber's pole worm |
|
|
|
|
|
D77A |
Asp74Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With G71W and D74A, recessive lethal; with D74A, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
S79K |
Ser79Lys |
AAF22514.1 |
Pestalotiopsis sp. |
Carbendazim-resistant |
Kummanid et al. 2016 J Phytopathol 165:515-21 |
Ascomycete fungus |
|
|
|
|
|
G82D |
Gly82Asp |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of F52Y β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
|
|
G82R |
Gly82Arg |
AAH03021.2 (TUBB3) |
H. sapiens |
Malformation of cortical development |
Poirier et al. 2010. Hum Mol Genet 19:4462-73 |
Homo sapiens, human |
|
|
|
|
|
V84V* |
Val84 |
AAC78686.1 (β1-tubulin) |
G. morhua |
Cold stable microtubules |
Modig et al. 1999. Cell Motil Cytoskeleton 42:315-30 |
Gadus morhua, extremophile, Atlantic cod, fish |
|
|
|
|
|
F85L |
Phe85Leu |
AAB18929.1 |
C. griseus |
With D39G, paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
F85L |
Phe85Leu |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of G142S β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
|
|
R86A |
Arg86Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D88A, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D88A |
Asp88Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R86A, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S21 |
S19 |
S89N |
Ser89Asn |
NP_001074440.1 (Tubb1) |
M. musculus |
R1869:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
S95F |
Ser95Phe |
NP_199247.1 (TUB4) |
A. thaliana |
Twisting, TUB4 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
|
|
T95M |
Thr95Met |
NP_080749.2 (Tubb6) |
M. musculus |
R4880:Tubb6, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
G96D |
Gly96Asp |
NP_199247.1 (TUB4) |
A. thaliana |
Twisting, TUB4 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
|
|
G96E |
Gly96Glu |
NP_524290.2 (B2tD) |
D. melanogaster |
B2t mutation, testes specific tubulin |
Fackenthal et al. 1995. Genetics 139:267-86 |
Drosophila melanogaster, fruit fly |
|
|
|
|
|
G96R |
Gly96Arg |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelinating leukodystrophy |
Lu et al. 2017. Hum Genome Var 4:17035 |
Homo sapiens, human |
|
|
|
|
|
S96F |
Ser96Phe |
NP_177706.1 (TUB1) |
A. thaliana |
Twisting, TUB1 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
|
|
A97T |
Ala97Thr |
NP_080749.2 (Tubb6) |
M. musculus |
R1926:Tubb6, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
A97V |
Ala97Val |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, mild recessive |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
G98R |
Gly98Arg |
Q9BVA1 (TUBB2B) |
H. sapiens |
Polymicrogyria, microlissencephaly, microretrognatism, dysmorphy, exophyhalmia, hypertelorism, oocyst arrest |
Cushion et al. 2013. Brain 136:536-48, Fallet-Bianco et al. 2014. Acta Neuropathol Commun 2:69 |
Homo sapiens, human |
|
|
|
|
|
G98R |
Gly98Arg |
NP_817124.1 (TUBB8) |
H. sapiens |
Arrest in oocyte maturation |
Wang et al. 2018. Gynecol Endocrinol |
Homo sapiens, human |
|
|
|
|
|
V100M |
Val100Met |
NP_116616.1 (TUB2) |
S. cerevisiae |
Cold sensitive mitotic arrest |
Pasqualone et al. 1994. J Cell Biol 127:1973-84 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
W101X |
Trp101Stop |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe recessive |
Savage et al. 1994. J Cell Sci 107:2165-75 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
V102A |
Ser79Lys |
AAF22514.1 |
Pestalotiopsis sp. |
Carbendazim-resistant |
Kummanid et al. 2016 J Phytopathol 165:515-21 |
Ascomycete fungus |
|
|
|
|
|
K103M |
Lys103Met |
NP_116616.1 (TUB2) |
S. cerevisiae |
Reduced GTP hydrolysis and tubulin critical concentration |
Davis et al. 1994. Science 264:839-42 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
T107G |
Thr107Gly |
NP_116616.1 (TUB2) |
S. cerevisiae |
Haploid lethal, enhanced GTP hydrolysis, critical concentration, & dynamic instability |
Davis et al. 1994. Science 264:839-42 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
T107K |
Thr107Lys |
NP_116616.1 (TUB2) |
S. cerevisiae |
Haploid lethal, enhanced GTP hydrolysis, critical concentration, & dynamic instability |
Davis et al. 1994. Science 264:839-42 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
T107K |
Thr107Lys |
NP_116616.1 (TUB2) |
S. cerevisiae |
Haploid lethal, slowed MT dynamics |
Sage et al. 1995. Cell Motil Cytoskeleton 30:285-300 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
T107W |
Thr107Trp |
NP_116616.1 (TUB2) |
S. cerevisiae |
Haploid lethal, enhanced GTP hydrolysis, critical concentration, & dynamic instability |
Dougherty et al. 1998. Biochemistry 37:10861-5 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
E108A |
Glu108Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E111A, cold sensitive, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
E108K |
Glu108Lys |
NP_817124.1 (TUBB8) |
H. sapiens |
Complete cleavage failure in fertilized eggs |
Yuan et al. 2018. J Assist Reprod Genet |
Homo sapiens, human |
|
|
|
|
|
G109E |
Gly109Glu |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
E111A |
Glu111Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E108A, cold sensitive, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
L112P |
Leu112Pro |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T351V, A364S, and V365S mutations |
|
|
H13 |
|
I113N |
Ile113Asn |
NP_001074440.1 (Tubb1) |
M. musculus |
R5154:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H13 |
H14 |
D114A |
Asp114Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D118A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H13 |
H14 |
D114N |
Asp114Asn |
NP_524290.2 (B2tD) |
D. melanogaster |
B2t mutation, testes specific tubulin |
Fackenthal et al. 1995. Genetics 139:267-86 |
Drosophila melanogaster, fruit fly |
|
|
|
H13 |
H14 |
L117P |
Leu117Pro |
Q9BVA1 (TUBB2B) |
H. sapiens |
Symmetric polymicrogyria and pachygyria |
Guerrini et al. 2012. Eur J Hum Genet 20:995-8 |
Homo sapiens, human |
|
|
|
H13 |
H14 |
D118A |
Asp118Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D114A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H13 |
H14 |
V119E |
Val119Glu |
NP_080749.2 (Tubb6) |
M. musculus |
R6351:Tubb6, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H13 |
H14 |
R121A |
Arg121Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R122A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H13 |
H14 |
K122E |
Lys122Glu |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of G142S β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
H13 |
H14 |
R122A |
Arg122Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R121A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H13 |
H14 |
E123A |
Glu123Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Cold sensitive, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H13 |
H14 |
A124C |
Ala124Cys |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains S126N, I155V, V189I, T218A, and C239S |
|
|
H13 |
H14 |
S124G |
Ser124Gly |
NP_001074440.1 (Tubb1) |
M. musculus |
R1317:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H13 |
H14 |
S124G |
Ser124Gly |
NP_001074440.1 (Tubb1) |
M. musculus |
R1751:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H13 |
H14 |
S124G |
Ser124Gly |
NP_001074440.1 (Tubb1) |
M. musculus |
R1761:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H13 |
H14 |
S124R |
Ser124Arg |
NP_001074440.1 (Tubb1) |
M. musculus |
IGL01877:Tubb1 , viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H13 |
H14 |
E125A |
Glu125Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D128A, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H13 |
H14 |
E126E* |
Glu126 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
H13 |
H14 |
S126N |
Ser126Asn |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains A124C, I155V, V189I, T218A, and C239S |
|
|
|
|
C127A |
Cys127Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Wild-type |
Gupta et al. 2001. Cell Motil Cytoskeleton 49:67-77 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
C127S |
Cys127Ser |
NP_116616.1 (TUB2) |
S. cerevisiae |
Wild-type |
Gupta et al. 2001. Cell Motil Cytoskeleton 49:67-77 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D128A |
Asp128Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E125A, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S22 |
S20 |
G140A |
Gly140Ala |
Q9BVA1 (TUBB2B) |
H. sapiens |
Axonal guidance and cortical development defects |
Romaniello et al. 2014. Dev Med Child Neurol 56:354-60 |
Homo sapiens, human |
|
|
|
|
|
G141E |
Gly141Glu |
NP_497806.1 (tbb-2) |
C. elegans |
Misplaced mitotic spindle |
Ellis et al. 2004. J Cell Sci 117:457-64 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
G141E |
Gly141Glu |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe recessive allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
G141E |
Gly141Glu |
AAI47699.1 (β1) |
M. musculus |
GTP binding motif mutation, folding mutant, cannot polymerize |
Zabala et al. 1996. J Cell Sci 109:1471-8 |
Mus musculus, mouse |
|
|
|
|
|
G141R |
Gly141Arg |
NP_509313.1 (MEC-7) |
C. elegans |
Reduced MT stability, short neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
ΔT143 |
ΔThr143 |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. J Med Genet 53:662-71 |
Homo sapiens, human |
|
|
|
|
|
T143G |
Thr143Gly |
NP_116616.1 (TUB2) |
S. cerevisiae |
Reduced GTP affinity, decreased GTPase activity, stable MTs |
Dougherty et al. 1998. Biochemistry 37:10861-5, Dougherty et al. 2001. Biochemistry 40:15725-32 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H15 |
S145A |
Ser145Ala |
XP_018180995.1 |
P. lilacinus |
With T185A and F200Y, carbendazim resistant |
Yang et al. 2015. Eur J Plant Pathol 143:57-68 |
Paecilomyces lilacinus, fungus |
|
|
|
H14 |
H15 |
G146C |
Gly146Cys |
AAI47699.1 (β1) |
M. musculus |
GTP binding motif mutation, folding mutant, cannot polymerize |
Zabala et al. 1996. J Cell Sci 109:1471-8 |
Mus musculus, mouse |
|
|
|
H14 |
H15 |
M147F |
Met147Phe |
AAI47699.1 (β1) |
M. musculus |
With G148T, GTP binding motif mutation, folding mutant, cannot polymerize |
Zabala et al. 1996. J Cell Sci 109:1471-8 |
Mus musculus, mouse |
|
|
|
H14 |
H15 |
M147K |
Met147Lys |
AAI47699.1 (β1) |
M. musculus |
GTP binding motif mutation, folding mutant, cannot polymerize |
Zabala et al. 1996. J Cell Sci 109:1471-8 |
Mus musculus, mouse |
|
|
|
H14 |
H15 |
G148R |
Gly148Arg |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe recessive allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H14 |
H15 |
G148S |
Gly148Ser |
AAI47699.1 (β1) |
M. musculus |
GTP binding motif mutation, folding mutant, cannot polymerize |
Zabala et al. 1996. J Cell Sci 109:1471-8 |
Mus musculus, mouse |
|
|
|
H14 |
H15 |
G148T |
Gly148Thr |
AAI47699.1 (β1) |
M. musculus |
With M147F, GTP binding motif mutation, folding mutant, cannot polymerize |
Zabala et al. 1996. J Cell Sci 109:1471-8 |
Mus musculus, mouse |
|
|
|
H14 |
H15 |
T149I |
Thr149Ile |
NP_509313.1 (MEC-7) |
C. elegans |
Increased MT stability, ectopic neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H14 |
H15 |
I152F |
Ile152Phe |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K154A and R156A, cold sensitive; with R156K, E157A, E158A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H14 |
H15 |
I152T |
Ile152Thr |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains C239L, L240P, R241P, and L273P mutations |
|
|
H14 |
H15 |
K154A |
Lys154Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R156A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H14 |
H15 |
I155V |
Ile155Val |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive mixed, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains K324R and L331H mutations |
|
|
H14 |
H15 |
I155V |
Ile155Val |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains A124C, S126N, V189I, T218A, and C239S |
|
|
H14 |
H15 |
R156A |
Arg156Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With I152F and K154A, cold sensitive; with K154A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H14 |
H15 |
R156K |
Arg156Lys |
NP_116616.1 (TUB2) |
S. cerevisiae |
With I152F, E157A, E158A, recessive lethal; with E157A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H14 |
H15 |
R156L |
Arg156Leu |
P04350.2 (TUBB4A) |
H. sapiens |
Static hypomyelinating leukodystrophy |
Purnell et al. 2014. Pediatr Neurol 50:608-11 |
Homo sapiens, human |
|
|
|
H14 |
H15 |
E157A |
Glu157Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With I152F, E157A, E158A, recessive lethal; with E156K, benomyl supersensitive; with E158A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H14 |
H15 |
E158A |
Glu158Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With I152F, E157A, E158A, recessive lethal; with E157A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
Y159H |
Tyr159His |
NP_035785.1 (Tubb5) |
M. musculus |
R6478:Tubb5, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
D161A |
Asp161Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R162A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S23 |
|
R162A |
Arg162Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D161A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S23 |
|
R162Q |
Arg162Gln |
NP_509313.1 (MEC-7) |
C. elegans |
Increased MT stability, ectopic neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S23 |
S21 |
I163V |
Ile163Val |
NP_033477.2 (Tubb4a) |
M. musculus |
P0022:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S23 |
S21 |
I163V |
Ile163Val |
NP_033477.2 (Tubb4a) |
M. musculus |
IGL02343:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S23 |
S21 |
M164T |
Met164Thr |
NP_075768.1 (Tubb3) |
M. musculus |
IGL02253:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S23 |
S21 |
A165V |
Ala165Val |
NP_524290.2 (B2tD) |
A. nidulans |
Benomyl resistant |
Jung et al. 1990. Cell Motil Cytoskeleton 17:87-94 |
Aspergillus nidulans, fungus |
|
|
|
S23 |
S21 |
E165K |
Glu165Lys |
XP_001455125.1 |
P. tetraurelia |
Nocodazole resistant |
Ruiz et al. 2004. Eukaryot Cell 3:212-20 |
Paramecium tetraurelia, ciliate |
|
|
|
S23 |
S21 |
T166A |
Thr166Ala |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, low grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, S239C, T315A, A332N, I333V, S335N, and V351T mutations |
|
|
S23 |
S21 |
F167Y |
Phe167Tyr |
AAA33617.1 |
N. crassa |
Benomyl resistant |
Orbach et al. 1986. Mol Cell Biol 6:2452-61 |
Neurospora crassa, fungus, red bread mold |
|
|
|
S23 |
S21 |
F167Y |
Phe167Tyr |
AAP68979.1 |
G. zeae |
Benzimidazole resistant (aka F. graminearum) |
Chen et al. 2009. Phytopathology 99:1403-11 |
Gibberella zeae, Fusarium graminearum, fungus |
|
|
|
S23 |
S21 |
F167Y |
Phe167Tyr |
NP_116616.1 (TUB2) |
S. cerevisiae |
Benzimidazole resistant, ben ss, cold sensitive |
Li et al. 1996. FEBS Lett 385:7-10 |
Saccharomyces cerevisiae, yeast |
|
|
|
S23 |
S21 |
V170M |
Val170Met |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains V316I, N48S, E45D, V64I, C201S, and A296S mutations |
|
|
S23 |
S21 |
V170M |
Val170Met |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N48S, E45D, V64I, C201S, A296S, and V316I mutations |
|
|
S23 |
S21 |
V170M |
Val170Met |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, low grade breast cancer |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
|
|
|
S23 |
S21 |
P171L |
Pro171Leu |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S23 |
S21 |
P171S |
Pro171Ser |
NP_509313.1 (MEC-7) |
C. elegans |
Reduced MT stability, short neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
S21 |
S172A |
Ser172Ala |
BAC54932.1 (M40) |
H. sapiens |
HTI-286 (hemiasterlin derivative) resistant |
Poruchynsky et al. 2004. Biochemistry 43:13944-54 |
Homo sapiens, human |
|
|
|
|
S21 |
S172A |
Ser172Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Cold & benomyl sensitive, synthetic lethal with Bik1p, Bim1p or Kar3p |
Caudron et al. 2010. PLoS One 5 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
S21 |
S172E |
Ser172Glu |
NP_116616.1 (TUB2) |
S. cerevisiae |
Cold & benomyl sensitive, synthetic lethal with Bik1p, Bim1p and Kar3p |
Caudron et al. 2010. PLoS One 5 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
S21 |
S172P |
Ser172Pro |
NP_509313.1 (MEC-7) |
C. elegans |
Reduced MT stability, short neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
S21 |
S172P |
Ser172Pro |
Q9BVA1 (TUBB2B) |
H. sapiens |
Polymicrogyria |
Jaglin et al. 2009. Nat Genet 41:746-52, Fallet-Bianco et al. 2014. Acta Neuropathol Commun 2:69 |
Homo sapiens, human |
|
|
|
|
|
L173L* |
Leu173 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
|
|
P173A |
Pro173Ala |
BAC54932.1 (M40) |
H. sapiens |
Epothilone resistant |
He et al. 2001. Mol Cancer Ther 1:3-10 |
Homo sapiens, human |
|
|
|
|
|
P173L |
Pro173Leu |
NP_509313.1 (MEC-7) |
C. elegans |
No defects |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
P173L |
Pro173Leu |
Q9BVA1 (TUBB2B) |
H. sapiens |
Microlissencephaly, microretrognatism, dysmorphy, exophyhalmia, hypertelorism |
Fallet-Bianco et al. 2014. Acta Neuropathol Commun 2:69 |
Homo sapiens, human |
|
|
|
|
|
K174A |
Lys174Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D177A, cold sensitive, Benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
T175R |
Thr175Arg |
NP_116616.1 (TUB2) |
S. cerevisiae |
With V179R, blocked polymerization |
Johnson et al. 2011. Biochemistry:8636-44 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
S176F |
Ser176Phe |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
S176L |
Ser176Leu |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. N Engl J Med 374:223-32, Feng et al. 2016. J Med Genet 53:662-71 |
Homo sapiens, human |
|
|
|
|
|
S176P |
Ser176Pro |
NP_033477.2 (Tubb4a) |
M. musculus |
R0195:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
D177A |
Asp177Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K174A, cold sensitive, Benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D177G |
Asp177Gly |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
D177G |
Asp177Gly |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive mixed breast cancer, also contains a C239R mutation |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains a C239R mutation |
|
|
|
|
D177N |
Asp177Asn |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
D177N |
Asp177Asn |
CAA23687.1 (β2) |
G. gallus |
GTP binding site mutation |
Farr and Sternlicht. 1992. J Mol Biol 227:307-21 |
Gallus gallus, red junglefowl, chicken, bird |
|
|
|
|
|
T178A |
Thr178Ala |
AAB18929.1 |
C. griseus |
With N416D, paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
T178I |
Thr178Ile |
NP_199247.1 (TUB4) |
A. thaliana |
Twisting, TUB4 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
|
|
T178M |
Thr178Met |
AAH03021.2 (TUBB3) |
H. sapiens |
Malformation of cortical development |
Poirier et al. 2010. Hum Mol Genet 19:4462-73 |
Homo sapiens, human |
|
|
|
|
|
T178R |
Thr178Arg |
P04350.2 (TUBB4A) |
H. sapiens |
hypomyelinating leukoencephalopathy |
Miyatake et al. 2014. Neurology 82:2230-7 |
Homo sapiens, human |
|
|
|
|
|
V179A |
Val179Ala |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
V179L |
Val179Leu |
NP_075768.1 (Tubb3) |
M. musculus |
IGL02208:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
V179R |
Val179Arg |
NP_116616.1 (TUB2) |
S. cerevisiae |
With T175R, blocked polymerization |
Johnson et al. 2011. Biochemistry:8636-44 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
V180A |
Val180Ala |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, S335N, V351T, S365A, and I374T mutations |
|
|
|
|
V180A |
Val180Ala |
NP_075768.1 (Tubb3) |
M. musculus |
R5054:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
H16 |
A181A* |
Ala181 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
|
H16 |
E181A |
Glu181Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H15 |
H16 |
T183T* |
Thr183 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
H15 |
H16 |
A185T |
Ala185Thr |
BAC54932.1 (M40) |
H. sapiens |
Paclitaxel resistant |
Yin et al. 2010. Mol Cancer Ther 9:327-35 |
Homo sapiens, human |
|
|
|
H15 |
H16 |
T185A |
Thr185A |
XP_018180995.1 |
P. lilacinus |
With S145A and F200Y, carbendazim resistant |
Yang et al. 2015. Eur J Plant Pathol 143:57-68 |
Paecilomyces lilacinus, fungus |
|
|
|
H15 |
H16 |
L187R |
Leu187Arg |
AAB18929.1 |
C. griseus |
Destabilized tubulin |
Wang et al. 2006. J Biol Chem 281:13628-35 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H15 |
H16 |
S188F |
Ser188Phe |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H15 |
H16 |
I189V |
Ile189Val |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains A218T, A275S, S364A, Q291R, K297R, R320P, and T386S mutations |
|
|
H15 |
H16 |
I189V |
Ile189Val |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains S239C, T315A, A332N, I333V, S335N, V351T, and T166A mutations |
|
|
H15 |
H16 |
V189I |
Val189Ile |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains A124C, S126N, I155V, T218A, and C239S |
|
|
|
H16 |
P190P* |
Pro190 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
|
H16 |
E194A |
Glu194Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With H195A and E198A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H16 |
E194A |
Glu194Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D197A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H16 |
E194K |
Glu194Lys |
NP_524290.2 (B2tD) |
D. melanogaster |
B2t mutation, testes specific tubulin |
Fackenthal et al. 1995. Genetics 139:267-86 |
Drosophila melanogaster, fruit fly |
|
|
|
|
|
H195A |
His195Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E194 and E198A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
N195S |
Asn195Ser |
NP_001074440.1 (Tubb1) |
M. musculus |
R2412:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S24 |
S22 |
D197A |
Asp197Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E194A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S24 |
S22 |
D197G |
Asp197Gly |
NP_075768.1 (Tubb3) |
M. musculus |
R4609:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S24 |
S22 |
D197N |
Asp197Asn |
CAA23687.1 (β2) |
G. gallus |
GTP binding site mutation |
Farr and Sternlicht. 1992. J Mol Biol 227:307-21 |
Gallus gallus, red junglefowl, chicken, bird |
|
|
|
S24 |
S22 |
D197N |
Asp197Asn |
BAC54932.1 (M40) |
H. sapiens |
2-Methoxyestradiol resistant |
Liaw et al. 2008. Mol Cancer Ther 7:3150-9 |
Homo sapiens, human |
|
|
|
S24 |
S22 |
E198A |
Glu198Ala |
AAB60307.1 (benA) |
B. cinerea |
Benomyl resistant |
Yarden. 1993. Phyotopathology 83 |
Botrytis cinerea, fungus |
|
|
|
S24 |
S22 |
E198A |
Glu198Ala |
AAP68979.1 (β2) |
F. asiaticum |
Benzimidazole resistant (aka Gibberella zeae) |
Yang et al. 2018. Pest Biochem Physiol 145:15-21 |
Gibberella zeae, Fusarium graminearum, fungus |
|
|
|
S24 |
S22 |
E198A |
Glu198Ala |
Q7Z7U2 |
M. fructicola |
Benomyl resistant |
Ma et al. 2003. Appl Environ Microbiol 69:7145-52 |
Monilinia fructicola, fungus |
|
|
|
S24 |
S22 |
E198A |
Glu198Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E194A and H195A, benomyl resistant; benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S24 |
S22 |
E198D |
Glu198Asp |
NP_524290.2 (B2tD) |
A. nidulans |
Benomyl resistant |
Jung et al. 1992. Cell Motil Cytoskeleton 22:170-4 |
Aspergillus nidulans, fungus |
|
|
|
S24 |
S22 |
E198G |
Glu198Gly |
BAC54932.1 (M40) |
H. sapiens |
Taxol resistant |
Wiesen et al. 2007. Cancer Lett 257:227-35 |
Homo sapiens, human |
|
|
|
S24 |
S22 |
E198G |
Glu198Gly |
AAA33617.1 |
N. crassa |
Carbendazim resistant, diethofencarb sensitive |
Fujimura et al. 1992. Curr Genet 21:399-404 |
Neurospora crassa, fungus, red bread mold |
|
|
|
S24 |
S22 |
E198K |
Glu198Lys |
NP_524290.2 (B2tD) |
A. nidulans |
Benomyl resistant |
Jung et al. 1992. Cell Motil Cytoskeleton 22:170-4 |
Aspergillus nidulans, fungus |
|
|
|
S24 |
S22 |
E198K |
Glu198Lys |
AAB60307.1 (benA) |
B. cinerea |
Benomyl resistant |
Yarden. 1993. Phyotopathology 83 |
Botrytis cinerea, fungus |
|
|
|
S24 |
S22 |
E198K |
Glu198Lys |
NP_497806.1 (tbb-2) |
C. elegans |
Disrupted spindle orientation, tbb-2 |
Wright and Hunter. 2003. Mol Biol Cell 14:4512-25 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S24 |
S22 |
E198K |
Glu198Lys |
U14138 |
C. gloeosporioides |
Benomyl resistant |
Buhr et al. 1994. Appl Environ Microbiol 60:4155-9 |
Colletotrichum gloeosporioides, anthracnose, fungus |
|
|
|
S24 |
S22 |
E198K |
Glu198Lys |
AAP68979.1 (β2) |
G. zeae |
Carbendazim resistant, (aka F. graminearum) |
Qiu et al. 2011. Pest Man Sci 67:191-8 |
Gibberella zeae, Fusarium graminearum, fungus |
|
|
|
S24 |
S22 |
E198L |
Glu198Leu |
AAP68979.1 (β2) |
G. zeae |
Benzimidazole resistant, carbendazim resistant (aka F. graminearum) |
Chen et al. 2009. Phytopathology 99:1403-11, Qiu et al. 2011. Pest Man Sci 67:191-8 |
Gibberella zeae, Fusarium graminearum, fungus |
|
|
|
S24 |
S22 |
E198Q |
Glu198Gln |
NP_524290.2 (B2tD) |
A. nidulans |
Benomyl resistant |
Jung et al. 1992. Cell Motil Cytoskeleton 22:170-4 |
Aspergillus nidulans, fungus |
|
|
|
S24 |
S22 |
E198Q |
Glu198Gln |
AAP68979.1 (β2) |
G. zeae |
Carbendazim resistant, (aka F. graminearum) |
Qiu et al. 2011. Pest Man Sci 67:191-8 |
Gibberella zeae, Fusarium graminearum, fungus |
|
|
|
S24 |
S22 |
E198V |
Glu198Val |
AAB60307.1 (benA) |
B. cinerea |
Benomyl resistant |
Yarden. 1993. Phyotopathology 83 |
Botrytis cinerea, fungus |
|
|
|
S24 |
S22 |
E200K |
Glu200Lys |
AAB60307.1 (benA) |
B. cinerea |
Benomyl resistant |
Yarden. 1993. Phyotopathology 83 |
Botrytis cinerea, fungus |
|
|
|
S24 |
S22 |
F200Y |
Phe200Tyr |
Q2QJK8 (Tub1) |
A. caninum |
Benzimidazole resistant |
Furtado et al. 2014. Vet Parasitol 206:313-6 |
Ancylostoma caninum, nematode, hookworm |
|
|
|
S24 |
S22 |
F200Y |
Phe200Tyr |
NP_524290.2 (B2tD) |
A. nidulans |
Benomyl resistant |
Jung et al. 1992. Cell Motil Cytoskeleton 22:170-4 |
Aspergillus nidulans, fungus |
|
|
|
S24 |
S22 |
F200Y |
Phe200Tyr |
AAP68979.1 |
G. zeae |
Benzimidazole resistant, carbendazim resistant (aka F. graminearum) |
Chen et al. 2009. Phytopathology 99:1403-11, Qiu et al. 2011. Pest Man Sci 67:191-8 |
Gibberella zeae, Fusarium graminearum, fungus |
|
|
|
S24 |
S22 |
F200Y |
Phe200Tyr |
AAA29170.1 |
H. contortus |
Benzimidazole resistant |
Kwa et al. 1994. Mol Biochem Parasitol 63:299-303 |
Haemonchus contortus, nematode, barber's pole worm |
|
|
|
S24 |
S22 |
F200Y |
Phe200Tyr |
Unavailable |
N. battus |
Benzimidazole resistant |
Morrisson et al. 2014. Vet Res 45:116 |
Nematodirosis battus, roundworm |
|
|
|
S24 |
S22 |
F200Y |
Phe200Tyr |
AAA33617.1 |
N. crassa |
Benomyl resistant |
Orbach et al. 1986. Mol Cell Biol 6:2452-61 |
Neurospora crassa, fungus, red bread mold |
|
|
|
S24 |
S22 |
F200Y |
Phe200Tyr |
XP_018180995.1 |
P. lilacinus |
With S145A and T185A, carbendazim resistant |
Yang et al. 2015. Eur J Plant Pathol 143:57-68 |
Paecilomyces lilacinus, fungus |
|
|
|
S24 |
S22 |
F200Y |
Phe200Tyr |
P05219 |
S. pombe |
Increased microtubule stability, delayed mitotic exit |
Paluh et al. 2004. Mol Biol Chem 15:1160-71 |
Schizosaccharomyces pombe, fission yeast, fungus |
|
|
|
S24 |
S22 |
F200Y |
Phe200Tyr |
Unavailable |
T. circumcincta |
Benomyl resistant |
Elard et al. 1999. Parasitol Res 85:452-6, Skuce et al. 2010. Int J Parasitol 40:1247-55 |
Teladorsagia circumcincta, nematode |
|
|
|
S24 |
S22 |
C201A |
Cys201Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Benomyl supersensitive |
Gupta et al. 2001. Cell Motil Cytoskeleton 49:67-77 |
Saccharomyces cerevisiae, yeast |
|
|
|
S24 |
S22 |
C201S |
Cys201Ser |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N48S, E45D, V64I, V170M, A296S, and V316I mutations |
|
|
S24 |
S22 |
C201S |
Cys201Ser |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains V316I, N48S, E45D, V64I, V170M, and A296S mutations |
|
|
S24 |
S22 |
F202F* |
Phe202 |
AAG15328.1 |
C. rastrospinosus |
Cold stability, CrTbB2 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Chionodraco rastrospinosus, extremophile, icefish |
|
|
|
S24 |
S22 |
F202F* |
Phe202 |
AAG15328.1 |
C. rastrospinosus |
Cold stability, CrTbB5 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Chionodraco rastrospinosus, extremophile, icefish |
|
|
|
S24 |
S22 |
F202F* |
Phe202 |
AAA49393.1 |
N. coriiceps |
Cold stability, NcTbB1 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Notothenia coriiceps, extremophile, icefish |
|
|
|
S24 |
S22 |
F202F* |
Phe202 |
AAG15315.1 |
N. coriiceps |
Cold stability, NcTbB2 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Notothenia coriiceps, extremophile, icefish |
|
|
|
S24 |
S22 |
F202F* |
Phe202 |
AAG15316.1 |
N. coriiceps |
Cold stability, NcTbB3 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Notothenia coriiceps, extremophile, icefish |
|
|
|
S24 |
S22 |
F202F* |
Phe202 |
AAG15317.1 |
N. coriiceps |
Cold stability, NcTbB4 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Notothenia coriiceps, extremophile, icefish |
|
|
|
S24 |
S22 |
D203A |
Asp203Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E205A, cold sensitive, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S24 |
S22 |
D203N |
Asp203Asn |
CAA23687.1 (β2) |
G. gallus |
GTP binding site mutation |
Farr and Sternlicht. 1992. J Mol Biol 227:307-21 |
Gallus gallus, red junglefowl, chicken, bird |
|
|
|
S24 |
S22 |
D203S |
Asp203Ser |
NP_116616.1 (TUB2) |
S. cerevisiae |
Mutation to the GTP binding site, non-viable as haploid |
Sage et al. 1995. Biochemistry 34:7409-19 |
Saccharomyces cerevisiae, yeast |
|
|
|
H16 |
H17 |
E205A |
Glu205Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D203A, cold sensitive, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H16 |
H17 |
E205K |
Glu205Lys |
AAH03021.2 (TUBB3) |
H. sapiens |
Malformation of cortical development |
Poirier et al. 2010. Hum Mol Genet 19:4462-73 |
Homo sapiens, human |
|
|
|
H16 |
H17 |
L207P |
Leu207Pro |
Q9BVA1 (TUBB2B) |
H. sapiens |
Polymicrogyria |
Cushion et al. 2013. Brain 136:536-48 |
Homo sapiens, human |
|
|
|
H16 |
H17 |
D209A |
Asp209Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H16 |
H17 |
D209N |
Asp209Asn |
CAA23687.1 (β2) |
G. gallus |
GTP binding site mutation |
Farr and Sternlicht. 1992. J Mol Biol 227:307-21 |
Gallus gallus, red junglefowl, chicken, bird |
|
|
|
H16 |
H17 |
I210T |
Ile210Thr |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H16 |
H17 |
I210T |
Ile210Thr |
Q9BVA1 (TUBB2B) |
H. sapiens |
Polymicrogyria |
Jaglin et al. 2009. Nat Genet 41:746-52 |
Homo sapiens, human |
|
|
|
H16 |
H17 |
I210V |
Ile210Val |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. J Med Genet 53:662-71 |
Homo sapiens, human |
|
|
|
H16 |
H17 |
C211A |
Cys211Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Benomyl supersensitive |
Gupta et al. 2001. Cell Motil Cytoskeleton 49:67-77 |
Saccharomyces cerevisiae, yeast |
|
|
|
H16 |
H17 |
C211F |
Cys211Phe |
AAB18929.1 |
C. griseus |
Colcimid and vinblastine resistant |
Yin et al. 2007. Mol Cancer Ther 6:2798-806 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H16 |
H17 |
C211S |
Cys211Ser |
NP_116616.1 (TUB2) |
S. cerevisiae |
Wild-type |
Gupta et al. 2001. Cell Motil Cytoskeleton 49:67-77 |
Saccharomyces cerevisiae, yeast |
|
|
|
H16 |
H17 |
Q212Q* |
Gln212 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
H16 |
H17 |
Q212Q* |
Gln212 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
H16 |
|
R213A |
Arg213Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K216A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H16 |
|
R213C |
Arg213Cys |
NP_075768.1 (Tubb3) |
M. musculus |
IGL01534:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
T214P |
Thr214Pro |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
L215F |
Leu215Phe |
AAD24566.1 |
C. griseus |
Taxol dependent, decreased microtubule assembly |
Gonzalez-Garray et al. 1999. J Biol Chem 274:23875-82 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
L215H |
Leu215His |
AAD24566.1 |
C. griseus |
Taxol resistant |
Gonzalez-Garray et al. 1999. J Biol Chem 274:23875-82, Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
L215I |
Leu215Ile |
AAD24566.1 |
C. griseus |
Taxol resistant |
Wang et al. 2006. Biochemistry 45:185-94 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
L215R |
Leu215Arg |
AAD24566.1 |
C. griseus |
Taxol resistant |
Gonzalez-Garray et al. 1999. J Biol Chem 274:23875-82 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
L215V |
Leu215Val |
AAD24566.1 |
C. griseus |
Negligible Taxol resistant |
Wang et al. 2006. Biochemistry 45:185-94 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
K216A |
Lys216Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R213A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
L217N |
Leu217Asn |
AAB18929.1 |
C. griseus |
Taxol resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
L217P |
Leu217Pro |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
L217R |
Leu217Arg |
AAD24566.1 |
C. griseus |
Taxol resistant |
Gonzalez-Garray et al. 1999. J Biol Chem 274:23875-82 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
A218T |
Ala218Thr |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, A275S, S364A, Q291R, K297R, R320P, and T386S mutations |
|
|
|
|
T218A |
Thr218Ala |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains A124C, S126N, I155V, V189I, and C239S |
|
|
|
|
P220C |
Pro220Cys |
AAD24566.1 |
C. griseus |
Correlated with paclitaxel resistant |
Yin et al. 2007. Mol Cancer Ther 6:2798-806 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
P220L |
Pro220Leu |
AAD24566.1 |
C. griseus |
Correlated with paclitaxel resistant |
Yin et al. 2007. Mol Cancer Ther 6:2798-806 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
P220S |
Pro220Ser |
NP_199247.1 (TUB4) |
A. thaliana |
Twisting, TUB4 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
|
|
P220S |
Pro220Ser |
NP_509313.1 (MEC-7) |
C. elegans |
Increased MT stability, ectopic neurites |
Kirszenblat et al. 2013. Mol Biol Chem 24:285-96, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
P220S |
Pro220Ser |
AAD24566.1 |
C. griseus |
Correlated with colcemid resistant |
Yin et al. 2007. Mol Cancer Ther 6:2798-806 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
P220T |
Pro220Thr |
AAD24566.1 |
C. griseus |
Correlated with colcemid resistant |
Yin et al. 2007. Mol Cancer Ther 6:2798-806 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
P220V |
Pro220Val |
AAD24566.1 |
C. griseus |
Correlated with paclitaxel resistant |
Yin et al. 2007. Mol Cancer Ther 6:2798-806 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
S221S* |
Ser221 |
AAC78686.1 (β1-tubulin) |
G. morhua |
Cold stable microtubules |
Modig et al. 1999. Cell Motil Cytoskeleton 42:315-30 |
Gadus morhua, extremophile, Atlantic cod, fish |
|
|
|
|
|
T221I |
Thr221Ile |
NP_001280141.1 (TUBB1) |
H. sapiens |
Microcephaly phenotypes, TUBB5 |
Madrigal et al. 2019. Gene 19:30101-5 |
Homo sapiens, human |
|
|
|
|
|
Y222F |
Tyr221Phe |
NP_001280141.1 (TUBB1) |
H. sapiens |
Microcephaly phenotypes, TUBB5 |
Madrigal et al. 2019. Gene 19:30101-5 |
Homo sapiens, human |
|
|
|
|
|
Y222F |
Tyr222Phe |
BAC54932.1 (M40) |
H. sapiens |
Circumferential Skin Creases Kunze Type |
Isrie et al. 2015. Am J Hum Genet. 97:790-800 |
Homo sapiens, human |
|
|
|
|
H18 |
D224N |
Asp224Asn |
AAB18929.1 |
C. griseus |
Colcimid and vinblastine resistant |
Yin et al. 2007. Mol Cancer Ther 6:2798-806 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
H18 |
D224N |
Asp224Asn |
CAA23687.1 (β2) |
G. gallus |
GTP binding site mutation |
Farr and Sternlicht. 1992. J Mol Biol 227:307-21 |
Gallus gallus, red junglefowl, chicken, bird |
|
|
|
|
H18 |
D226Y |
Asn226Tyr |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, mild semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H17 |
H18 |
H227R |
His227Arg |
NP_075768.1 (Tubb3) |
M. musculus |
R3913:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H17 |
H18 |
N227H |
Asn227His |
NP_116616.1 (TUB2) |
S. cerevisiae |
Required for Taxol binding |
Gupta et al. 2003. Proc Natl Acad Sci USA 100:6394-7 |
Saccharomyces cerevisiae, yeast |
|
|
|
H17 |
H18 |
L228F |
Leu228Phe |
AAD24566.1 |
C. griseus |
Taxol dependent |
Gonzalez-Garray et al. 1999. J Biol Chem 274:23875-82 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H17 |
H18 |
L228H |
Leu228His |
AAD24566.1 |
C. griseus |
Taxol dependent |
Gonzalez-Garray et al. 1999. J Biol Chem 274:23875-82 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H17 |
H18 |
L228P |
Leu228Pro |
Q9BVA1 (TUBB2B) |
H. sapiens |
Polymicrogyria |
Jaglin et al. 2009. Nat Genet 41:746-52 |
Homo sapiens, human |
|
|
|
H17 |
H18 |
V229A |
Val229Ala |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. N Engl J Med 374:223-32 |
Homo sapiens, human |
|
|
|
H17 |
H18 |
A231T |
Ala231Thr |
BAC54932.1 (M40) |
H. sapiens |
Decreased microtubule stability |
Verrills et al. 2003. Chem Biol 10:597-607 |
Homo sapiens, human |
|
|
|
H17 |
H18 |
V232V* |
Val232 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
H17 |
H18 |
M233V |
Met233Val |
NP_116616.1 (TUB2) |
S. cerevisiae |
With Y242C and Q245L, cold sensitive microtubules |
Huffaker et al. 1988. J Cell Biol 106:1997-2010 |
Saccharomyces cerevisiae, yeast |
|
|
|
H17 |
H18 |
S234G |
Ser234Gly |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H17 |
H18 |
S234N |
Ser234Asn |
AAB18929.1 |
C. griseus |
Colcimid and vinblastine resistant |
Yin et al. 2007. Mol Cancer Ther 6:2798-806 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
H18 |
T237A |
Thr237Ala |
AAA33617.1 |
N. crassa |
Carbendazim resistant, diethofencarb sensitive |
Fujimura et al. 1992. Curr Genet 21:399-404 |
Neurospora crassa, fungus, red bread mold |
|
|
|
|
|
T238A |
Thr238Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Spindle elongation defect |
Machin et al. 1995. Mol Biol Cell 6:1241-59, Geyer et al. 2015. eLife 4:1-20 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
T238H |
Thr238His |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive mucinous breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains C239L, L240P, and R241P mutations |
|
|
|
|
T238M |
Thr238Met |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. J Med Genet 53:662-71 |
Homo sapiens, human |
|
|
|
|
|
C239F |
Cys239Phe |
Q9BVA1 (TUBB2B) |
H. sapiens |
Microlissencephaly, microretrognatism, dysmorphy, exophyhalmia, hypertelorism |
Fallet-Bianco et al. 2014. Acta Neuropathol Commun 2:69 |
Homo sapiens, human |
|
|
|
|
|
C239F |
Cys239Phe |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) |
Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
|
|
C239L |
Cys239Leu |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I152T, L240P, R241P, and L273P mutations |
|
|
|
|
C239L |
Cys239Leu |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive lobular breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains L240P and R241P mutations |
|
|
|
|
C239L |
Cys239Leu |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive mucinous breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T238H, L240P, and R241P mutations |
|
|
|
|
C239P |
Cys239Pro |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains L240P and R241P mutations |
|
|
|
|
C239R |
Cys239Arg |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive mixed breast cancer, also contains a D177G mutation |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains a D177G mutation |
|
|
|
|
C239R |
Cys239Arg |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal breast cancer, taxane treated |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
|
|
|
|
|
C239S |
Cys239Ser |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains A124C, S126N, I155V, V189I, and T218A |
|
|
|
|
C239S |
Cys239Ser |
A7XGY7 |
P. sojae |
Zoxamide resistant |
Cai et al. 2016. Front Microbiol 7:762 |
Phytophthora sojae, oomycete |
|
|
|
|
|
C239Y |
Cys239Tyr |
AEE32507.1 (TUB2) |
A. thaliana |
Twisting, TUB2 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
|
|
C239Y |
Cys239Tyr |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal breast cancer |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
|
|
|
|
|
S239C |
Ser239Cys |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, T315A, A332N, I333V, S335N, V351T, and T166A mutations |
|
|
|
|
L240I |
Leu240Ile |
BAC54932.1 (M40) |
H. sapiens |
Vinca resistant |
Kavallaris et al. 2001. Cancer Res 61:5803-9 |
Homo sapiens, human |
|
|
|
|
|
L240P |
Leu240Pro |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I152T, C239L, R241P, and L273P mutations |
|
|
|
|
L240P |
Leu240Pro |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains C239P and R241P mutations |
|
|
|
|
L240P |
Leu240Pro |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive lobular breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains C239L and L240P mutations |
|
|
|
|
L240P |
Leu240Pro |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive mucinous breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T238H, C239L, and R241P mutations |
|
|
|
|
R241H |
Arg241His |
Q9BVA1 (TUBB2B) |
H. sapiens |
Myoclonus-dystonia |
Geiger et al. 2017. Case Rep Neurol 9: 216-221 |
Homo sapiens, human |
|
|
|
|
|
R241H |
Arg241His |
NP_116616.1 (TUB2) |
S. cerevisiae |
Benomyl resistant, cold stable |
Thomas et al. 1985. Genetics 111:715-34, Machin et al. 1996. Genetics 144:1363-73 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
R241P |
Arg241Pro |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I152T, C239L, L240P, and L273P mutations |
|
|
|
|
R241P |
Arg241Pro |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains C239P and L240P mutations |
|
|
|
|
R241P |
Arg241Pro |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive lobular breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains C239L and L240P mutations |
|
|
|
|
R241P |
Arg241Pro |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive mucinous breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T238H, C239L, and L240P mutations |
|
|
|
|
Y242C |
Tyr242Cys |
NP_116616.1 (TUB2) |
S. cerevisiae |
With M233V and Q245L, cold sensitive microtubules |
Huffaker et al. 1988. J Cell Biol 106:1997-2010 |
Saccharomyces cerevisiae, yeast |
|
|
|
S25 |
|
P243L |
Pro243Leu |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S25 |
|
P243S |
Pro243Ser |
NP_509313.1 (MEC-7) |
C. elegans |
Reduced MT stability, short neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S25 |
|
G244S |
Gly244Ser |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S25 |
|
G244S |
Gly244Ser |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination, basal ganglia and cerebellum atrophy |
Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
S25 |
|
G244V |
Gly244Val |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination, basal ganglia and cerebellum atrophy |
Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
S25 |
|
G245E |
Gly245Glu |
NP_177706.1 (TUB1) |
A. thaliana |
Twisting, TUB1 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
S25 |
|
Q245L |
Gln245Leu |
NP_116616.1 (TUB2) |
S. cerevisiae |
With M233V and Y242C, cold sensitive microtubules |
Huffaker et al. 1988. J Cell Biol 106:1997-2010 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
N247I |
Asn247Ile |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
N247K |
Asn247Lys |
NP_001060.1 (TUBB2A) |
H. sapiens |
Simplified gyral patterning and infantile-onset epilepsy |
Cushion et al. 2014. Am J Hum Genet 94:634-41 |
Homo sapiens, human |
|
|
|
|
|
N247S |
Asn247Ser |
Q9CWF2 (TUBB2B) |
M. musculus |
Hippocampal disorganization |
Stottmann et al. 2013. Hum Mol Genet 22:4053-63, Stottmann et al. 2017. Genes Brain Behav 16:250-259 |
Mus musculus, mouse |
|
|
|
|
|
A248T |
Ala248Thr |
NP_110400.1 (TUBB1) |
H. sapiens |
2-methoxyestradiol resistant |
Liaw et al. 2008. Mol Cancer Ther 7:3150-9 |
Homo sapiens, human |
|
|
|
|
|
A248T |
Ala248Thr |
Q9BVA1 (TUBB2B) |
H. sapiens |
Microlissencephaly, microretrognatism, dysmorphy, exophyhalmia, hypertelorism |
Fallet-Bianco et al. 2014. Acta Neuropathol Commun 2:69 |
Homo sapiens, human |
|
|
|
|
|
A248V |
Ala248Val |
NP_110400.1 (TUBB1) |
H. sapiens |
Paclitaxel resistant |
Yin et al. 2010. Mol Cancer Ther 9:327-35 |
Homo sapiens, human |
|
|
|
|
|
A248V |
Ala248Val |
NP_001060.1 (TUBB2A) |
H. sapiens |
Simplified gyral patterning and infantile-onset epilepsy |
Cushion et al. 2014. Am J Hum Genet 94:634-41 |
Homo sapiens, human |
|
|
|
|
|
S248P |
Ser248Pro |
Unavailable |
N. plumbaginifolia |
Dinitroaniline resistant |
Emets et al. 2009. Tsitol Genet 43:69-76 |
Nicotiana plumbaginifolia, tobacco plant |
|
|
|
H18 |
|
D249A |
Asp249Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R251A and K252A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H18 |
|
D249E |
Asp249Glu |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive mucinous, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, S335N, V351T, S364A, S365V, M293V, and A352V mutations |
|
|
H18 |
|
D249N |
Asp249Asn |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H18 |
|
D249N |
Asp249Asn |
XP_022264614.1 |
C. familiaris |
Inherited macrothrombocytopenia in Cavalier King Charles Spaniels |
Davis et al. 2008. J Vet Intern Med 22:540-5 |
Canis familiaris, dog |
|
|
|
H18 |
|
D249N |
Asp249Asn |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) |
Simons et al. 2013. Am J Hum Genet 92:767-73, Hersheson et al. 2013. Ann Neurol 73:546-53, Miyatake et al. 2014. Neurology 82:2230-7, Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
H18 |
H19 |
L250F |
Leu250Phe |
NP_199247.1 (TUB4) |
A. thaliana |
Twisting, TUB4 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
H18 |
H19 |
L250F |
Leu250Phe |
AAA33617.1 |
N. crassa |
Carbendazim resistant, diethofencarb sensitive |
Fujimura et al. 1992. Curr Genet 21:399-404 |
Neurospora crassa, fungus, red bread mold |
|
|
|
H18 |
H19 |
R251A |
Arg251Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D249A and K252A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H18 |
H19 |
K252A |
Lys252Ala |
P04350.2 (TUBB4A) |
H. sapiens |
Acetylation mimetic tubulin, reduced MT incorporation |
Chu et al. 2011. Mol Biol Cell 22:448-56 |
Homo sapiens, human |
|
|
|
H18 |
H19 |
K252A |
Lys252Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D249A and R251A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H18 |
H19 |
K252Q |
Lys252Gln |
P04350.2 (TUBB4A) |
H. sapiens |
Acetylation mimetic tubulin, reduced MT incorporation |
Chu et al. 2011. Mol Biol Cell 22:448-56 |
Homo sapiens, human |
|
|
|
H18 |
H19 |
A254V |
Ala254Val |
AAB18929.1 |
C. griseus |
Suppressor of Asp45Tyr mutation/paclitaxel hypersensitive |
Wang et al. 2004. Biochemistry 43:8965-73 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H18 |
H19 |
V255L |
Val255Leu |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H18 |
H19 |
V255M |
Val255Met |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, mild semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H18 |
H19 |
V255M |
Val255Met |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. J Med Genet 53:662-71 |
Homo sapiens, human |
|
|
|
H18 |
H19 |
N256S |
Asn256Ser |
Q9BVA1 (TUBB2B) |
H. sapiens |
Symmetric polymicrogyria and pachygyria |
Guerrini et al. 2012. Eur J Hum Genet 20:995-8 |
Homo sapiens, human |
|
|
|
|
|
F260S |
Phe260Ser |
NP_110400.1 (TUBB1) |
H. sapiens |
Congenital macrothrombocytopenia |
Kunishima et al. 2014. Eur J Haematol 92:276-82 |
Homo sapiens, human |
|
|
|
|
|
P261S |
Pro261Ser |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of F52Y β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
|
|
R262A |
Arg262Ala |
AAH03021.2 (TUBB3) |
H. sapiens |
Impaired kinesin activity |
Minoura et al. 2016. Nat Commun 7:10058 |
Homo sapiens, human |
|
|
|
|
|
R262C |
Arg262Cys |
AAH03021.2 (TUBB3) |
H. sapiens |
Extraocular congenital fibrosis syndrome (CFEOM3) |
Tischfield et al. 2010. Cell 140:74-87 |
Homo sapiens, human |
|
|
|
|
|
R262H |
Arg262His |
AAH03021.2 (TUBB3) |
H. sapiens |
Extraocular congenital fibrosis syndrome (CFEOM3), Moebius syndrome, increased MT stability |
MacKinnon et al. 2014. Opthalmology 121:1461-8, Ti et al. 2016. Dev Cell 37:72-84 |
Homo sapiens, human |
|
|
|
|
|
R262H |
Arg262His |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination, hypomyelinating leukoencephalopathy |
Miyatake et al. 2014. Neurology 82:2230-7 |
Homo sapiens, human |
|
|
|
|
|
R262Q |
Arg2Gln |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. N Engl J Med 374:223-32 |
Homo sapiens, human |
|
|
|
|
|
R262W |
Arg262Trp |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. J Med Genet 53:662-71 |
Homo sapiens, human |
|
|
|
|
|
L263P |
Leu263Pro |
NP_075768.1 (Tubb3) |
M. musculus |
IGL02669:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
L263Q |
Leu263Gln |
NP_524290.2 (B2tD) |
D. melanogaster |
Intragenic suppressor of B2tD allele (Glu194Lys) |
Fackenthal et al. 1995. Genetics 139:267-86 |
Drosophila melanogaster, fruit fly |
|
|
|
S26 |
S23 |
H264Q |
His264Gln |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of G142S β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
S26 |
S23 |
F265L |
Phe265Leu |
Q9BVA1 (TUBB2B) |
H. sapiens |
Polymicrogyria |
Jaglin et al. 2009. Nat Genet 41:746-52 |
Homo sapiens, human |
|
|
|
S26 |
S23 |
F265L |
Phe265Leu |
NP_116616.1 (TUB2) |
S. cerevisiae |
Impairs Bim1 (yeast EB1)-dependent spindle positioning |
Denarier et al. 2019. Biology Open 8 |
Saccharomyces cerevisiae, yeast |
|
|
|
S26 |
S23 |
S267S* |
Ser267 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
S26 |
S23 |
S267S* |
Ser267 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
S26 |
S23 |
G269D |
Gly269Asp |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S26 |
S23 |
G269V |
Gly269Val |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of F52Y β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
S26 |
S23 |
S269S* |
Ser269 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
S26 |
S23 |
S269S* |
Ser269 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
S26 |
S23 |
F270C |
Phe270Cys |
AAB18929.1 |
C. griseus |
Paclitaxel and Taxol resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
S26 |
S23 |
F270I |
Phe270Ile |
BAC54932.1 (M40) |
H. sapiens |
Docetaxel resistant |
Hara et al. 2010. Cell Biol Int 34:177-84 |
Homo sapiens, human |
|
|
|
S26 |
S23 |
F270V |
Phe270Val |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
S26 |
S23 |
F270V |
Phe270Val |
BAC54932.1 (M40) |
H. sapiens |
Paclitaxel resistant |
Giannakakou et al. 1997. J Biol Cell 272:17118-25, Burkhart et al. 2001. Biochim Biophys Acta 1497:1-9 |
Homo sapiens, human |
|
|
|
S26 |
S23 |
Y270F |
Tyr270Phe |
NP_116616.1 (TUB2) |
S. cerevisiae |
Required for Taxol binding |
Gupta et al. 2003. Proc Natl Acad Sci USA 100:6394-7 |
Saccharomyces cerevisiae, yeast |
|
|
|
S26 |
S23 |
A271T |
Ala271Thr |
P04350.2 (TUBB4A) |
H. sapiens |
Dystonia and ataxic gait |
Hersheson et al. 2013. Ann Neurol 73:546-53, Lohmann et al. 2013. Ann Neurol 73:537-45 |
Homo sapiens, human |
|
|
|
|
|
L273P |
Leu273Pro |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I152T, C239L, L240P, and R241P mutations |
|
|
|
|
L273V |
Leu273Val |
NP_110400.1 (TUBB1) |
H. sapiens (KB3 cells) |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Homo sapiens, human |
|
|
|
|
|
L273V |
Leu273Val |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of F52Y β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
|
|
P273A |
Pro273Ala |
BAC54932.1 (M40) |
H. sapiens |
Epothilone resistant |
He et al. 2001. Mol Cancer Ther 1:3-10 |
Homo sapiens, human |
|
|
|
|
|
T274I |
Thr274Ile |
BAC54932.1 (M40) |
H. sapiens |
Epothilone and taxane resistant |
Giannakakou et al. 2000. Proc Natl Acad Sci USA 97:2904-9 |
Homo sapiens, human |
|
|
|
|
|
A275S |
Ala275Ser |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, A218T, S364A, Q291R, K297R, R320P, and T386S mutations |
|
|
|
|
A275T |
Ala275Thr |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
|
|
|
|
|
S275A |
Ser275Ala |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains A315T, N332A, V333I, N335S, T351V, A365S, L44P and Q292R mutations |
|
|
|
|
S275C |
Ser275Cys |
AAB18929.1 |
C. griseus |
With L395D, paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
T276T* |
Thr276 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
|
|
T276T* |
Thr276 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
|
|
Q279X |
Gln279Stop |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe recessive allele |
Savage et al. 1994. J Cell Sci 107:2165-75 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
T279T* |
Thr279 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
|
|
T279T* |
Thr279 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
|
|
G280G* |
Gly280 |
AAA49393.1 |
N. coriiceps |
Cold stability, NcTbB1 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Notothenia coriiceps, extremophile, icefish |
|
|
|
|
|
Q280X |
Gln280Stop |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe recessive allele |
Savage et al. 1994. J Cell Sci 107:2165-75 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
C281C* |
Cys281 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
|
|
Y281H |
Tyr281His |
AAB18929.1 |
C. griseus |
With T372A, paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
Y281X |
Tyr281stop |
NP_033477.2 (Tubb4a) |
M. musculus |
R0309:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
R282A |
Arg282Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E288A, cold sensitive, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
R282Q |
Arg282Gln |
BAC54932.1 (M40) |
H. sapiens |
Epothilone and taxane resistant |
Giannakakou et al. 2000. Proc Natl Acad Sci USA 97:2904-9 |
Homo sapiens, human |
|
|
|
|
|
H283H* |
His283 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
|
|
H283H* |
His283 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
|
|
S283S* |
Ser283 |
AAC78686.1 (β1-tubulin) |
G. morhua |
Cold stable microtubules |
Modig et al. 1999. Cell Motil Cytoskeleton 42:315-30 |
Gadus morhua, extremophile, Atlantic cod, fish |
|
|
|
|
|
S285S* |
Ser285 |
AAG15328.1 |
C. rastrospinosus |
Cold stability, CrTbB5 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Chionodraco rastrospinosus, extremophile, icefish |
|
|
|
|
|
S285S* |
Ser285 |
AAA49393.1 |
N. coriiceps |
Cold stability, NcTbB1 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Notothenia coriiceps, extremophile, icefish |
|
|
|
|
|
S285S* |
Ser285 |
AAG15316.1 |
N. coriiceps |
Cold stability, NcTbB3 |
Detrich et al. 2000. J Biol Chem 275:37038-47 |
Notothenia coriiceps, extremophile, icefish |
|
|
|
|
|
T285P |
Thr285Pro |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. J Med Genet 53:662-71 |
Homo sapiens, human |
|
|
|
H19 |
H20 |
V286D |
Val286Asp |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H19 |
H20 |
P287L |
Pro287Leu |
AEE32507.1 (TUB2) |
A. thaliana |
Twisting, TUB2 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
H19 |
H20 |
P287L |
Pro287Leu |
AAA32882.1 (TUB3) |
A. thaliana |
Twisting, TUB3 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
H19 |
H20 |
P287L |
Pro287Leu |
NP_199247.1 (TUB4) |
A. thaliana |
Twisting, TUB4 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
H19 |
H20 |
P287L |
Pro287Leu |
NP_199247.1 (TUB4) |
A. thaliana |
Shade avoidance |
Yu et al. 2015. J Integr Plant Biol 57:757-69 |
Arabidopsis thaliana, plant |
|
|
|
H19 |
H20 |
E288A |
Glu288Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R282A, cold sensitive, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H19 |
H20 |
E288K |
Glu288Lys |
AAH03021.2 (TUBB3) |
H. sapiens |
Cortical malformations with unilateral hypohidrosis |
Oegema et al. 2015. Hum Mol Genet 24:5213-25, Fukumura et al. 2016. Child Neurol Open 3:1-3 |
Homo sapiens, human |
|
|
|
H19 |
H20 |
E288K |
Glu288Lys |
NP_199247.1 (TUB4) |
A. thaliana |
Twisting, TUB4 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
H19 |
H20 |
E288K |
Glu288Lys |
NP_524290.2 (B2tD) |
D. melanogaster |
Recessive male sterile, testes specific β-tubulin isoform |
Rudolph et al. 1987. Mol Cell Biol 7:2231-42 |
Drosophila melanogaster, fruit fly |
|
|
|
H19 |
H20 |
E288K |
Glu288Lys |
XP_001455125.1 |
P. tetraurelia |
Suppressor of sm-19 (β-tubulin allele) |
Ruiz et al. 2004. Eukaryot Cell 3:212-20 |
Paramecium tetraurelia, ciliate |
|
|
|
H19 |
H20 |
E288K |
Glu288Lys |
NP_116616.1 (TUB2) |
S. cerevisiae |
Modest supersensitive to benomyl |
Praitis et al. 1991. Mol Cell Biol 11:4726-31 |
Saccharomyces cerevisiae, yeast |
|
|
|
H19 |
H20 |
E288X |
Glu288stop |
NP_033477.2 (Tubb4a) |
M. musculus |
IGL02562:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H19 |
H20 |
Q291E |
Gln291Glu |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of G142S β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
H19 |
H20 |
Q291M |
Gln291Met |
BAC54932.1 (M40) |
H. sapiens |
Increased peloruside sensitive |
Kanakkanthara et al. 2015. Cancer Lett 365:251-60 |
Homo sapiens, human |
|
|
|
H19 |
H20 |
Q291R |
Gln291Arg |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, A218T, A275S, S364A, K297R, R320P, and T386S mutations |
|
|
H19 |
H20 |
E292H |
Glu292His |
AAB18929.1 |
C. griseus |
Suppressor of Asp45Tyr mutation/paclitaxel hypersensitive |
Wang et al. 2004. Biochemistry 43:8965-73 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H19 |
H20 |
Q292E |
Gln292Glu |
BAC54932.1 (M40) |
H. sapiens |
Epothilone resistant |
He et al. 2001. Mol Cancer Ther 1:3-10 |
Homo sapiens, human |
|
|
|
H19 |
H20 |
Q292P |
Gln292Pro |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H19 |
H20 |
Q292R |
Gln292Arg |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains S275A, A315T, N332A, V333I, N335S, T351V, A365S, and L44P mutations |
|
|
H19 |
H20 |
M293V |
Met293Val |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive mucinous, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, S335N, V351T, S364A, S365V, D249E, and A352V mutations |
|
|
|
H20 |
D294H |
Asp294His |
Q9BVA1 (TUBB2B) |
H. sapiens |
Microlissencephaly, microretrognatism, dysmorphy, exophyhalmia, hypertelorism |
Fallet-Bianco et al. 2014. Acta Neuropathol Commun 2:69 |
Homo sapiens, human |
|
|
|
|
|
D295I |
Asp295Ile |
BAC54932.1 (M40) |
H. sapiens |
Peloruside and laulimalide resistant |
Kanakkanthara et al. 2015. Cancer Lett 365:251-60 |
Homo sapiens, human |
|
|
|
|
|
D295N |
Asp295Asn |
CAA23687.1 (β2) |
G. gallus |
GTP binding site mutation |
Farr and Sternlicht. 1992. J Mol Biol 227:307-21 |
Gallus gallus, red junglefowl, chicken, bird |
|
|
|
|
|
D295N |
Asp295Asn |
NP_116616.1 (TUB2) |
S. cerevisiae |
Mutation to the GTP binding site, viable as haploid |
Sage et al. 1995. Biochemistry 34:7409-19 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
A296S |
Ala296Ser |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N48S, E45D, V64I, V170M, C201S, and V316I mutations |
|
|
|
|
A296S |
Ala296Ser |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains V316I, N48S, E45D, V64I, V170M, and C201S mutations |
|
|
|
|
A296T |
Ala296Thr |
BAC54932.1 (M40) |
H. sapiens |
Resistant to peloruside A |
Kanakkanthara et al. 2011. Mol Cancer Ther 10:1418-29 |
Homo sapiens, human |
|
|
|
|
|
D296A |
Asp295Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D296A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
G296G* |
Gly296 |
AAC78686.1 (β1-tubulin) |
G. morhua |
Cold stable microtubules |
Modig et al. 1999. Cell Motil Cytoskeleton 42:315-30 |
Gadus morhua, extremophile, Atlantic cod, fish |
|
|
|
|
|
K297A |
Lys297Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K297A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
K297R |
Lys297Arg |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, A218T, A275S, S364A, Q291R, R320P, and T386S mutations |
|
|
|
S24 |
N298D |
Asn298Asp |
NP_080749.2 (Tubb6) |
M. musculus |
R2940:Tubb6, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
S24 |
N298K |
Asn298Lys |
NP_116616.1 (TUB2) |
S. cerevisiae |
Mutation to the GTP binding site, viable as haploid |
Sage et al. 1995. Biochemistry 34:7409-19 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
S24 |
N298Q |
Asn298Gln |
NP_116616.1 (TUB2) |
S. cerevisiae |
Mutation to the GTP binding site, viable as haploid |
Sage et al. 1995. Biochemistry 34:7409-19 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
S24 |
N298S |
Asn298Ser |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
S24 |
I299T |
Ile299Thr |
NP_001074440.1 (Tubb1) |
M. musculus |
R1574:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
S24 |
M299V |
Met299Val |
BAC54932.1 (M40) |
H. sapiens |
Microcephaly |
Breuss et al. 2012. Cell Rep 2:1554-62 |
Homo sapiens, human |
|
|
|
|
S24 |
M299V |
Met299Val |
NP_001280141.1 (TUBB1) |
H. sapiens |
Microcephaly phenotypes, TUBB5 |
Madrigal et al. 2019. Gene 19:30101-5 |
Homo sapiens, human |
|
|
|
|
S24 |
M300I |
Met300Ile |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. N Engl J Med 374:223-32 |
Homo sapiens, human |
|
|
|
|
S24 |
M300T |
Met300Thr |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
S24 |
M300V |
Met300Val |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
S24 |
M300V |
Met300Val |
NP_001074440.1 (Tubb1) |
M. musculus |
R5276:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
A302T |
Ala302Thr |
NP_509313.1 (MEC-7) |
C. elegans |
Increased MT stability, ectopic neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
A302T |
Ala302Thr |
AAH03021.2 (TUBB3) |
H. sapiens |
Extraocular congenital fibrosis syndrome (CFEOM3) |
Tischfield et al. 2010. Cell 140:74-87 |
Homo sapiens, human |
|
|
|
|
|
A302V |
Ala302Val |
NP_199247.1 (TUB4) |
A. thaliana |
Twisting, TUB4 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
|
|
A302V |
Ala302Val |
AAH03021.2 (TUBB3) |
H. sapiens |
Malformation of cortical development |
Poirier et al. 2010. Hum Mol Genet 19:4462-73 |
Homo sapiens, human |
|
|
|
|
|
C303G |
Cys303Gly |
NP_075768.1 (Tubb3) |
M. musculus |
R3012:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
C303S |
Cys303Ser |
NP_509313.1 (MEC-7) |
C. elegans |
No defects |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
C303Y |
Cys303Tyr |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, mild semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
D304A |
Asp304Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R306A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D304G |
Asp304Gly |
NP_033477.2 (Tubb4a) |
M. musculus |
R0043:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
P305L |
Pro305Leu |
NP_080749.2 (Tubb6) |
M. musculus |
R4660:Tubb6, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
R306A |
Arg306Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D304A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
R306C |
Arg306Cys |
BAC54932.1 (M40) |
H. sapiens |
Resistant to peloruside A, laulimalide and Taxol |
Hasegawa et al. 2002. Int J Cancer 101:46-51, Berrieman et al. 2004. Lancet Oncol 5:158-64, Yin et al. 2010. Mol Cancer Ther 9:327-35, Kanakkanthara et al. 2011. Mol Cancer Ther 10:1418-29 |
Homo sapiens, human |
|
|
|
|
|
R306H |
Arg306His |
BAC54932.1 (M40) |
H. sapiens |
Resistant to peloruside A and laulimalide |
Kanakkanthara et al. 2011. Mol Cancer Ther 10:1418-29 |
Homo sapiens, human |
|
|
|
|
|
R307H |
Arg307His |
BAC54932.1 (M40) |
H. sapiens |
Associated with treatment failures in immune thrombocytopenia (ITP) |
Basciano et al. 2013. Br J Haematol 160:237-43 |
Homo sapiens, human |
|
|
|
S27 |
|
G308C |
Gly308Cys |
NP_001074440.1 (Tubb1) |
M. musculus |
IGL03404:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S27 |
S25 |
R309A |
Arg309Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S27 |
S25 |
Y311Y* |
Tyr311 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
S27 |
S25 |
T312N |
Thr312Asn |
NP_075768.1 (Tubb3) |
M. musculus |
R3951:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S28 |
S25 |
T313M |
Thr312Met |
Q9BVA1 (TUBB2B) |
H. sapiens |
Polymicrogyria |
Jaglin et al. 2009. Nat Genet 41:746-52 |
Homo sapiens, human |
|
|
|
S28 |
S25 |
V313M |
Val313Met |
NP_497806.1 (tbb-2) |
C. elegans |
Misplaced mitotic spindle, tbb-2 |
Wright and Hunter. 2003. Mol Biol Cell 14:4512-25 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S28 |
S25 |
A314V |
Ala314Val |
NP_509313.1 (MEC-7) |
C. elegans |
Reduced MT stability, short neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S28 |
S25 |
A314V |
Ala314Val |
NP_075768.1 (Tubb3) |
M. musculus |
R2074:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S28 |
S25 |
A314V |
Ala314Val |
NP_075768.1 (Tubb3) |
M. musculus |
R2075:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S28 |
S25 |
A315T |
Ala315Thr |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains S275A, N332A, V333I, N335S, T351V, A365S, L44P and Q292R mutations |
|
|
S28 |
S25 |
T315A |
Thr315Ala |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains A332N, I333V, S335N, V351T, S365A, V180A and I374T mutations |
|
|
S28 |
S25 |
T315A |
Thr315Ala |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, S239C, A332N, I333V, S335N, V351T, and T166A mutations |
|
|
S28 |
S25 |
T315A |
Thr315Ala |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive mucinous, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains A332N, I333V, S335N, V351T, S364A, S365V, D249E, M293V, and A352V mutations |
|
|
S28 |
S25 |
S316F |
Ser316Phe |
P04350.2 (TUBB4A) |
H. sapiens |
With R2G, dystonia and ataxic gait |
Hersheson et al. 2013. Ann Neurol 73:546-53, Lohmann et al. 2013. Ann Neurol 73:537-45 |
Homo sapiens, human |
|
|
|
S28 |
S25 |
V316I |
Val316Ile |
NP_001060.1 (TUBB2A) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N48S, E45D, V64I, V170M, C201S, and A296S mutations |
|
|
S28 |
S25 |
F317I |
Phe317Ile |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S28 |
S25 |
F317S |
Phe317Ser |
Unavailable |
N. plumbaginifolia |
Dinitroaniline resistant |
Emets et al. 2009. Tsitol Genet 43:69-76 |
Nicotiana plumbaginifolia, tobacco plant |
|
|
|
S28 |
S25 |
R318A |
Arg318Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K320A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
S28 |
S25 |
R318C |
Arg318Cys |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of G142S β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
S28 |
S25 |
R318Q |
Arg318Gln |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S28 |
S25 |
R318X |
Arg318Stop |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe recessive allele |
Savage et al. 1994. J Cell Sci 107:2165-75 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S28 |
S25 |
R318W |
Arg318Trp |
BAC54932.1 (M40) |
H. sapiens |
macrothrombocytopenia |
Kunishima et al. 2009. Blood 113:458-61 |
Homo sapiens, human |
|
|
|
S28 |
S25 |
R318W |
Arg318Trp |
NP_116616.1 (TUB2) |
S. cerevisiae |
Cold sensitive microtubules |
Huffaker et al. 1988. J Cell Biol 106:1997-2010 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
K320A |
Lys320Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R318A, benomyl resistant |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
R320C |
Arg320Cys |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
|
R320P |
Arg320Pro |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, A218T, A275S, S364A Q291R, K297R, and T386S mutations |
|
|
|
|
S320S* |
Ser320 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
|
|
S320S* |
Ser320 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
|
|
S320S* |
Ser320 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
|
H21 |
M323R |
Met323Arg |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) |
Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
|
H21 |
M323V |
Met323Val |
AAH03021.2 (TUBB3) |
H. sapiens |
Malformation of cortical development |
Poirier et al. 2010. Hum Mol Genet 19:4462-73 |
Homo sapiens, human |
|
|
|
H20 |
H21 |
K324A |
Lys324Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E325A, cold sensitive, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H20 |
H21 |
K324R |
Lys324Arg |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive mixed, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I155V and L331H mutations |
|
|
H20 |
H21 |
L324L* |
Leu324 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
H20 |
H21 |
Q324Q* |
Gln324 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
H20 |
H21 |
E325A |
Glu325Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K324A, cold sensitive, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H20 |
H21 |
V326A |
Val326Ala |
NP_075768.1 (Tubb3) |
M. musculus |
R5690:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H20 |
H21 |
E327A |
Glu327Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D328A and E329A, dominant lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H20 |
H21 |
D328A |
Asp328Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E327 and E329A, dominant lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H20 |
H21 |
E329A |
Glu329Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E327A and D328A, dominant lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H20 |
H21 |
I331I* |
Ile331 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
H20 |
H21 |
L331H |
Leu331His |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive mixed, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains K324R and I155V mutations |
|
|
H20 |
H21 |
A332N |
Ala332Asn |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, I333V, S335N, V351T, S365A, V180A and I374T mutations |
|
|
H20 |
H21 |
A332N |
Ala332Asn |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, low grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, S239C, T315A, I333V, S335N, V351T, and T166A mutations |
|
|
H20 |
H21 |
A332N |
Ala332Asn |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive mucinous, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, I333V, S335N, V351T, S364A, S365V, D249E, M293V, and A352V mutations |
|
|
H20 |
H21 |
K332A |
Lys332Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K336A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H20 |
H21 |
N332A |
Asn332Ala |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains V333I, N335S, T351V, and A365S |
|
|
H20 |
H21 |
N332A |
Asn332Ala |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains S275A, A315T, V333I, N335S, T351V, A365S, L44P and Q292R mutations |
|
|
H20 |
H21 |
I333V |
Ile333Val |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, S335N, V351T, S365A, V180A and I374T mutations |
|
|
H20 |
H21 |
I333V |
Ile333Val |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, low grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, S239C, T315A, A332N, S335N, V351T, and T166A mutations |
|
|
H20 |
H21 |
I333V |
Ile333Val |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive mucinous, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, S335N, V351T, S364A, S365V, D249E, M293V, and A352V mutations |
|
|
H20 |
H21 |
V333I |
Val333Ile |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N332A, N335S, T351V, and A365S |
|
|
H20 |
H21 |
V333I |
Val333Ile |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains S275A, A315T, N332A, N335S, T351V, A365S, L44P and Q292R mutations |
|
|
H20 |
H21 |
V333W |
Val333Trp |
BAC54932.1 (M40) |
H. sapiens |
Peloruside and paclitaxel resistant |
Kanakkanthara et al. 2015. Cancer Lett 365:251-60 |
Homo sapiens, human |
|
|
|
H20 |
H21 |
N335S |
Asn335Ser |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N332A, V333I, T351V, and A365S |
|
|
H20 |
H21 |
N335S |
Asn335Ser |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains S275A, A315T, N332A, V333I, T351V, A365S, L44P and Q292R mutations |
|
|
H20 |
H21 |
S335N |
Ser335Asn |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, V351T, S365A, V180A and I374T mutations |
|
|
H20 |
H21 |
S335N |
Ser335Asn |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, S239C, T315A, A332N, I333V, V351T, and T166A mutations |
|
|
H20 |
H21 |
S335N |
Ser335Asn |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive mucinous, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, V351T, S364A, S365V, D249E, M293V, and A352V mutations |
|
|
|
H21 |
K336A |
Lys332Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K332A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H21 |
N337L |
Asn337Leu |
BAC54932.1 (M40) |
H. sapiens |
Peloruside, laulimalide and paclitaxel resistant |
Kanakkanthara et al. 2015. Cancer Lett 365:251-60 |
Homo sapiens, human |
|
|
|
|
H21 |
N337T |
Asn337Thr |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of G142S β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
|
H21 |
N337Y |
Asn337Tyr |
NP_033477.2 (Tubb4a) |
M. musculus |
R6351:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
D339A |
Asp339Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E343A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
S340S* |
Ser340 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
|
|
Y340C |
Tyr340Cys |
NP_035785.1 (Tubb5) |
M. musculus |
R1920:Tubb5, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
Y340C |
Tyr340Cys |
NP_035785.1 (Tubb5) |
M. musculus |
R1922:Tubb5, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
Y340C |
Tyr340Cys |
NP_080749.2 (Tubb6) |
M. musculus |
R3739:Tubb6, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
E343A |
Glu343Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D339A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
W344X |
Trp344Stop |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, mild, semi dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
N347S |
Asn347Ser |
NP_001074440.1 (Tubb1) |
M. musculus |
IGL02535:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S29 |
S26 |
N348S |
Asn348Ser |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
S29 |
S26 |
N348S |
Asn348Ser |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. J Med Genet 53:662-71 |
Homo sapiens, human |
|
|
|
S29 |
S26 |
K350E |
Lys350Glu |
XP_001693997.1 (Tub2) |
C. reinhardtii |
Resistant to microtubule disrupting drugs |
Lee and Huang. 1990. Plant Cell 2:1051-7, Schibler and Huang. 1991. J Cell Biol 113:605-14 |
Chlamydomonas reinhardtii, algae |
|
|
|
S29 |
S26 |
K350M |
Lys350Met |
XP_001693997.1 (Tub2) |
C. reinhardtii |
resistant to microtubule disrupting drugs |
Lee and Huang. 1990. Plant Cell 2:1051-7, Schibler and Huang. 1991. J Cell Biol 113:605-14 |
Chlamydomonas reinhardtii, algae |
|
|
|
S29 |
S26 |
K350M |
Lys350Met |
P41352 |
T. thermophila |
Paclitaxel hypersensitive |
Smith et al. 2004. Eukaryot Cell 3:1217-26 |
Tetrahymena thermophila |
|
|
|
S29 |
S26 |
K350N |
Lys350Asn |
AAB18929.1 |
C. griseus |
Colcimid and vinblastine resistant |
Yin et al. 2007. Mol Cancer Ther 6:2798-806 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
S29 |
S26 |
K350N |
Lys350Asn |
BAC54932.1 (M40) |
H. sapiens |
Indanocine resistant, 2-Methoxyestradiol resistant |
Hua et al. 2001. Cancer Res 61:7248-54, Gökmen-Polar et al. 2005. Cancer Res 65:9406-14, Liaw et al. 2008. Mol Cancer Ther 7:3150-9 |
Homo sapiens, human |
|
|
|
S29 |
S26 |
S351F |
Ser351Phe |
NP_199247.1 (TUB4) |
A. thaliana |
Twisting, TUB4 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
S29 |
S26 |
T351A |
Thr351Ala |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
S29 |
S26 |
T351S |
Thr351Ser |
NP_033477.2 (Tubb4a) |
M. musculus |
R2762:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S29 |
S26 |
T351V |
Thr351Val |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains A364S, V365S, and L112P mutations |
|
|
S29 |
S26 |
T351V |
Thr351Val |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N332A, V333I, N335S, A365S |
|
|
S29 |
S26 |
T351V |
Thr351Val |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains S275A, A315T, N332A, V333I, N335S, A365S, L44P and Q292R mutations |
|
|
S29 |
S26 |
V351T |
Val351Thr |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, S335N, S365A, V180A and I374T mutations |
|
|
S29 |
S26 |
V351T |
Val351Thr |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, S239C, T315A, A332N, I333V, S335N, and T166A mutations |
|
|
S29 |
S26 |
V351T |
Val351Thr |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive mucinous, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, S335N, S364A, S365V, D249E, M293V, and A352V mutations |
|
|
S29 |
S26 |
A352T |
Ala352Thr |
NP_509313.1 (MEC-7) |
C. elegans |
Reduced MT stability, short neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S29 |
S26 |
A352T |
Ala352Thr |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) |
Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
S29 |
S26 |
A352V |
Ala352Val |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive mucinous, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, S335N, V351T, S364A, S365V, D249E, and M293V mutations |
|
|
S29 |
S26 |
V353A |
Val353Ala |
NP_033477.2 (Tubb4a) |
M. musculus |
R3927:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
S29 |
S26 |
V353I |
Val353Ile |
BAC54932.1 (M40) |
H. sapiens |
Microcephaly |
Breuss et al. 2012. Cell Rep 2:1554-62 |
Homo sapiens, human |
|
|
|
S29 |
S26 |
V353I |
Val353Ile |
NP_001280141.1 (TUBB1) |
H. sapiens |
Microcephaly phenotypes, TUBB5 |
Madrigal et al. 2019. Gene 19:30101-5 |
Homo sapiens, human |
|
|
|
S29 |
S26 |
C354A |
Cys354Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Benomyl resistant, decreased growth, cold stable |
Gupta et al. 2001. Cell Motil Cytoskeleton 49:67-77, Gupta et al. 2002. Mol Biol Cell 13:2919-32 |
Saccharomyces cerevisiae, yeast |
|
|
|
S29 |
S26 |
C354S |
Cys354Ser |
NP_116616.1 (TUB2) |
S. cerevisiae |
Benomyl resistant, decreased growth, cold stable |
Gupta et al. 2001. Cell Motil Cytoskeleton 49:67-77, Gupta et al. 2002. Mol Biol Cell 13:2919-32 |
Saccharomyces cerevisiae, yeast |
|
|
|
S29 |
S26 |
C354Y |
Cys354Tyr |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) |
Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
S29 |
S26 |
D355D* |
Asn355 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
S29 |
S26 |
V355V* |
Val355 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
|
|
G356G* |
Gly356 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
|
|
G356G* |
Gly356 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
|
|
P357L |
Pro357Leu |
NP_509313.1 (MEC-7) |
C. elegans |
Reduced MT stability, short neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
P357L |
Pro357Leu |
AAH03021.2 (TUBB3) |
H. sapiens |
Cerebellar dysplasia |
Oegema et al. 2015. Hum Mol Genet 24:5213-25 |
Homo sapiens, human |
|
|
|
|
|
P358R |
Pro358Arg |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of G142S β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
|
|
Q358Q* |
Gln358 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
|
|
R360R* |
Arg360 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
S30 |
S27 |
D363D* |
Asp363 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
S30 |
S27 |
D363D* |
Asp363 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
S30 |
S27 |
M363T |
Met300Thr |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. N Engl J Med 374:223-32 |
Homo sapiens, human |
|
|
|
S30 |
S27 |
M363V |
Met363Val |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of G142S β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
S30 |
S27 |
A364T |
Ala364Thr |
BAC54932.1 (M40) |
H. sapiens |
Paclitaxel resistant |
Giannakakou et al. 1997. J Biol Cell 272:17118-25 |
Homo sapiens, human |
|
|
|
S30 |
S27 |
A364T |
Ala364Thr |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
S30 |
S27 |
I374T |
Ile374Thr |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, S335N, V351T, S365A, and V180A mutations |
|
|
S30 |
S27 |
S364A |
Ser364Ala |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, A218T, A275S, Q291R, K297R, R320P, and T386S mutations |
|
|
S30 |
S27 |
S364A |
Ser364Ala |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive mucinous, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, S335N, V351T, S365V, D249E, M293V, and A352V mutations |
|
|
S30 |
S27 |
A365S |
Ala365Ser |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains N332A, V333I, N335S, and T351V |
|
|
S30 |
S27 |
A365S |
Ala365Ser |
XP_007945164.1 (TUBB4B) |
H. sapiens |
Invasive ductal, high grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains S275A, A315T, N332A, V333I, N335S, T351V, L44P and Q292R mutations |
|
|
S30 |
S27 |
S365A |
Ser365Ala |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive ductal, high grade breast cancer, doxorubicin-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, S335N, V351T, V180A and I374T mutations |
|
|
S30 |
S27 |
S365V |
Ser365Val |
NP_001184110.1 (TUBB3)
|
H. sapiens |
Invasive mucinous, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T315A, A332N, I333V, S335N, V351T, S364A, D249E, M293V, and A352V mutations |
|
|
S30 |
S27 |
V365D |
Val365Asp |
NP_110400.1 (TUBB1) |
H. sapiens (KB3 cells) |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Homo sapiens, human |
|
|
|
|
|
V365S |
Val365Ser |
NP_001280141.1 (TUBB1) |
H. sapiens |
Invasive ductal, low grade breast cancer, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains T351V, A364S, and L112P mutations |
|
|
S30 |
S27 |
C366C* |
Cys366 |
AAP75759.2 |
C. caldarium |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidium caldarium, extremophile, algae |
|
|
|
S30 |
S27 |
C366C* |
Cys366 |
BAM81345.1 |
C. merolae |
Heat resistant tubulin (correlation, unpublished) |
Arnold MS thesis (Virginia Polytechnic Institute) |
Cyanidioschyzon merolae, extremophile, algae |
|
|
|
S30 |
S27 |
F367I |
Phe367Ile |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) |
Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
S30 |
S27 |
F367L |
Phe367Leu |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) |
Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
S30 |
S27 |
F367L |
Phe367Leu |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
S30 |
S27 |
I368V |
Ile368Val |
AAA29170.1 |
H. contortus |
Associated with benzimidazole resistant |
Kwa et al. 1994. Mol Biochem Parasitol 63:299-303 |
Haemonchus contortus, nematode, barber's pole worm |
|
|
|
S30 |
S27 |
G369E |
Gly369Glu |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe recessive allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S30 |
S27 |
G369R |
Gly369Arg |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe semi-dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
S30 |
S27 |
T372A |
Thr372Ala |
AAB18929.1 |
C. griseus |
With Y281H, paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
S30 |
S27 |
T372P |
Thr372Pro |
NP_116616.1 (TUB2) |
S. cerevisiae |
With I374V and Q375R, cold sensitive microtubules |
Huffaker et al. 1988. J Cell Biol 106:1997-2010 |
Saccharomyces cerevisiae, yeast |
|
|
|
S30 |
|
A373V |
Ala373Val |
NP_075768.1 (Tubb3) |
M. musculus |
R1164:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
I374V |
Ile374Val |
NP_116616.1 (TUB2) |
S. cerevisiae |
With T372P and Q375R, cold sensitive microtubules |
Huffaker et al. 1988. J Cell Biol 106:1997-2010 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
Q375R |
Gln375Arg |
NP_116616.1 (TUB2) |
S. cerevisiae |
With T372P and I374V, cold sensitive microtubules |
Huffaker et al. 1988. J Cell Biol 106:1997-2010 |
Saccharomyces cerevisiae, yeast |
|
|
|
H21 |
H22 |
E376A |
Glu376Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K379A, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H21 |
H22 |
E376G |
Glu376Gly |
AAB18929.1 |
C. griseus |
With V60A, paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H21 |
H22 |
L377F |
Leu377Phe |
NP_509313.1 (MEC-7) |
C. elegans |
Increased MT stability, ectopic neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H21 |
H22 |
I379I* |
Ile379 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
H21 |
H22 |
K379A |
Lys379Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E376A, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H21 |
H22 |
R379R* |
Arg379 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
H21 |
H22 |
R380A |
Arg380Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D383A, wild-type; kinesin binding |
Reijo et al. 1994. Mol Biol Cell 5:29-43, Uchimura et al. 2010. EMBO J 29:1167-75 |
Saccharomyces cerevisiae, yeast |
|
|
|
H21 |
H22 |
R380C |
Arg380Cys |
Q9BVA1 (TUBB2B) |
H. sapiens |
Polymicrogyria |
Cushion et al. 2013. Brain 136:536-48 |
Homo sapiens, human |
|
|
|
H21 |
H22 |
R380C |
Arg380Cys |
AAH03021.2 (TUBB3) |
H. sapiens |
Extraocular congenital fibrosis syndrome (CFEOM3) |
Tischfield et al. 2010. Cell 140:74-87 |
Homo sapiens, human |
|
|
|
H21 |
H22 |
R380S |
Arg380Ser |
NP_509313.1 (MEC-7) |
C. elegans |
Increased MT stability, ectopic neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H21 |
H22 |
R380S |
Arg380Ser |
Q9BVA1 (TUBB2B) |
H. sapiens |
Polymicrogyria |
Cushion et al. 2013. Brain 136:536-48 |
Homo sapiens, human |
|
|
|
H21 |
H22 |
D383A |
Asp383Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With R380A, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
H21 |
H22 |
E383K |
Glu383Lys |
NP_001074440.1 (Tubb1) |
M. musculus |
R4415:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H21 |
H22 |
T386S |
Thr386Ser |
NP_001184110.1 (TUBB3) |
H. sapiens |
Invasive ductal, high grade breast cancer, taxane-treated, other PMs |
Wang et al. 2017. Protoplasma 254:1163-1173 |
Homo sapiens, human |
Also contains I189V, A218T, A275S, S364A Q291R, K297R, and R320P mutations |
|
|
H21 |
H22 |
M388I |
Met388Ile |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) |
Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
H21 |
H22 |
M388T |
Met388Thr |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) |
Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
H21 |
H22 |
M388V |
Met388Val |
AAH03021.2 (TUBB3) |
H. sapiens |
Malformation of cortical development |
Poirier et al. 2010. Hum Mol Genet 19:4462-73 |
Homo sapiens, human |
|
|
|
H21 |
H22 |
M388V |
Met388Val |
Q9BVA1 (TUBB2B) |
H. sapiens |
Microlissencephaly, microretrognatism, dysmorphy, exophyhalmia, hypertelorism |
Fallet-Bianco et al. 2014. Acta Neuropathol Commun 2:69 |
Homo sapiens, human |
|
|
|
H21 |
H22 |
M388V |
Met388Val |
P04350.2 (TUBB4A) |
H. sapiens |
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) |
Miyatake et al. 2014. Neurology 82:2230-7, Hamilton et al. 2014. Brain 137:1921-30 |
Homo sapiens, human |
|
|
|
|
|
K390A |
Lys390Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K392A, cold sensitive, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
R390Q |
Arg390Gln |
NP_116616.1 (TUB2) |
S. cerevisiae |
No growth defect, increased sensitive to depolymerizing drugs |
Breuss et al. 2017. Hum Mol Genet 26:258-269 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
R390Q |
Arg390Gln |
Q9BVA1 (TUBB2B) |
H. sapiens |
Uner Tan syndrome (mental retardation) |
Breuss et al. 2017. Hum Mol Genet 26:258-269 |
Homo sapiens, human |
|
|
|
|
|
R391H |
Arg391His |
NP_006079.1 |
H. sapiens |
Leber congenital amaurosis |
Luscan et al. 2017. Am J Hum Genet 101:1006-12 |
Homo sapiens, human |
|
|
|
|
|
R391T |
Arg391Thr |
NP_116616.1 (TUB2) |
S. cerevisiae |
Cold sensitive microtubules |
Huffaker et al. 1988. J Cell Biol 106:1997-2010 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
K392A |
Lys392Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With K390A, cold sensitive, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
A393T |
Ala393Thr |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, dominant allele |
Savage et al. 1994. J Cell Sci 107:2165-75, Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
A393V |
Ala393Val |
NP_509313.1 (MEC-7) |
C. elegans |
Reduced MT stability, short neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
A393V |
Ala393Val |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of G142S β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
|
|
A394T |
Ala394Thr |
NP_177706.1 (TUB1) |
A. thaliana |
Twisting, TUB1 |
Ishida et al. 2007. Proc Natl Acad Sci USA 104:8544-9 |
Arabidopsis thaliana, plant |
|
|
|
|
|
F394A |
Phe394Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With W397E, blocked polymerization |
Johnson et al. 2011. Biochemistry:8636-44 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H23 |
L395D |
Leu395Asp |
AAB18929.1 |
C. griseus |
With S275C, paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
H23 |
H396Q |
His396Gln |
EPT27619.1 (β1-tubulin) |
T. gondii |
Suppressor of F52Y β-tubulin defects |
Ma et al. 2008. Genetics 180:845-56 |
Toxoplasma gondii, parasite |
|
|
|
|
H23 |
W397E |
Trp397Glu |
NP_116616.1 (TUB2) |
S. cerevisiae |
With F394A, blocked polymerization |
Johnson et al. 2011. Biochemistry:8636-44 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H23 |
Y398C |
Tyr398Cys |
AAB18929.1 |
C. griseus |
Destabilized tubulin |
Wang et al. 2006. J Biol Chem 281:13628-35 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
|
H23 |
Y398H |
Tyr398His |
NP_033477.2 (Tubb4a) |
M. musculus |
R6284:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
H23 |
E401A |
Glu401Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D404A, cold sensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H23 |
E401K |
Glu401Lys |
BAC54932.1 (M40) |
H. sapiens |
Microcephaly |
Breuss et al. 2012. Cell Rep 2:1554-62 |
Homo sapiens, human |
|
|
|
|
H23 |
E401K |
Glu401Lys |
NP_001280141.1 (TUBB1) |
H. sapiens |
Microcephaly phenotypes, TUBB5 |
Madrigal et al. 2019. Gene 19:30101-5 |
Homo sapiens, human |
|
|
|
|
H23 |
G402E |
Gly402Glu |
NP_524290.2 (B2tD) |
D. melanogaster |
B2t mutation, testes specific tubulin |
Fackenthal et al. 1995. Genetics 139:267-86 |
Drosophila melanogaster, fruit fly |
|
|
|
|
H23 |
G402R |
Gly402Arg |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, mild recessive allele |
Savage et al. 1994. J Cell Sci 107:2165-75 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
|
|
D404A |
Asp404Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E401A, cold sensitive; with E401A and D404A, dominant lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
E405A |
Glu405Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E407A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
I405L |
Ile405Leu |
NP_001074440.1 (Tubb1) |
M. musculus |
R1163:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H22 |
H24 |
E407A |
Glu407Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E405A, recessive lethal; with E401A and D404A, dominant lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43, Uchimura et al. 2010. EMBO J 29:1167-75 |
Saccharomyces cerevisiae, yeast |
|
|
|
H22 |
H24 |
E407K |
Glu407Lys |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, mild recessive allele |
Savage et al. 1994. J Cell Sci 107:2165-75 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H22 |
H24 |
E407L |
Glu407Leu |
NP_509313.1 (MEC-7) |
C. elegans |
Increased MT stability, ectopic neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H22 |
H24 |
Q408Q* |
Gln408 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
H22 |
H24 |
I409I* |
Ile409 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
H22 |
H24 |
E410 |
Glu410:Transposon |
NP_509313.1 (MEC-7) |
C. elegans |
mec-7, severe recessive allele |
Savage et al. 1994. J Cell Sci 107:2165-75 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H22 |
H24 |
E410A |
Glu410Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E412A, recessive lethal; kinesin binding |
Reijo et al. 1994. Mol Biol Cell 5:29-43, Uchimura et al. 2006. EMBO J 25:5932-41 |
Saccharomyces cerevisiae, yeast |
|
|
|
H22 |
H24 |
E410G |
Glu410Gly |
NP_001074440.1 (Tubb1) |
M. musculus |
R0666:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H22 |
H24 |
E410K |
Glu410K |
NP_509313.1 (MEC-7) |
C. elegans |
Reduced MT stability, short neurites |
Zheng et al. 2017. Mol Biol Cell 28:2786-2801 |
Caenorhabditis elegans, nematode, roundworm |
|
|
|
H22 |
H24 |
E410K |
Glu410Lys |
AAH03021.2 (TUBB3) |
H. sapiens |
Moebius syndrome (facial palsy) |
MacKinnon et al. 2014. Opthalmology 121:1461-8 |
Homo sapiens, human |
|
|
|
H22 |
H24 |
E410K |
Glu410Lys |
P04350.2 (TUBB4A) |
H. sapiens |
Axonal transport and neuropathies |
Niwa et al. 2013. EMBO J 32:1352-64, Miyatake et al. 2014. Neurology 82:2230-7 |
Homo sapiens, human |
|
|
|
H22 |
H24 |
E410V |
Glu410Val |
AAH03021.2 (TUBB3) |
H. sapiens |
Moebius syndrome (facial palsy) |
MacKinnon et al. 2014. Opthalmology 121:1461-8 |
Homo sapiens, human |
|
|
|
H22 |
H24 |
E412A |
Glu412Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E410A, recessive lethal; kinesin binding |
Reijo et al. 1994. Mol Biol Cell 5:29-43, Uchimura et al. 2006. EMBO J 25:5932-41 |
Saccharomyces cerevisiae, yeast |
|
|
|
H22 |
H24 |
N414S |
Asn414Ser |
NP_080749.2 (Tubb6) |
M. musculus |
IGL01823:Tubb6, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H22 |
H24 |
I415V |
Ile415Val |
NP_001074440.1 (Tubb1) |
M. musculus |
R5730:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H22 |
H24 |
M415V |
Met415Val |
AAB18929.1 |
C. griseus |
Paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H22 |
H24 |
H416Q |
His416Gln |
NP_001074440.1 (Tubb1) |
M. musculus |
R6008:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H22 |
H24 |
N416A |
Asn416Ala |
AAB18929.1 |
C. griseus |
With T178A, paclitaxel resistant |
Yin et al. 2012. Pharm Res 29:2994-3006 |
Cricetulus griseus, chinese hamster, rodent |
|
|
|
H22 |
H24 |
N416S |
Asn416Ser |
NP_035785.1 (Tubb5) |
M. musculus |
R5508:Tubb5, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H22 |
H24 |
D417A |
Asp417Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E421A, recessive lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43, Uchimura et al. 2006. EMBO J 25:5932-41 |
Saccharomyces cerevisiae, yeast |
|
|
|
H22 |
H24 |
D417H |
Asp417His |
AAH03021.2 (TUBB3) |
H. sapiens |
Extraocular congenital fibrosis syndrome (CFEOM3), increased MT stability |
Tischfield et al. 2010. Cell 140:74-87, Ti et al. 2016. Dev Cell 37:72-84 |
Homo sapiens, human |
|
|
|
H22 |
H24 |
D417N |
Asp417Asn |
Q3ZCM7 (TUBB8) |
H. sapiens |
Defects in oocyte meiosis |
Feng et al. 2016. N Engl J Med 374:223-32 |
Homo sapiens, human |
|
|
|
H22 |
H24 |
D417N |
Asp417Asn |
NP_001060.1 (TUBB2A) |
H. sapiens |
Progressive spastic ataxia |
Sferra et al. 2018. Hum Mol Genet 27:1892-1904 |
Homo sapiens, human |
|
|
|
H22 |
H24 |
D417N |
Asp417Asn |
Q9BVA1 (TUBB2B) |
H. sapiens |
Symmetric polymicrogyria and pachygyria |
Guerrini et al. 2012. Eur J Hum Genet 20:995-8 |
Homo sapiens, human |
|
|
|
H22 |
H24 |
V419M |
Val419Met |
NP_033477.2 (Tubb4a) |
M. musculus |
R0348:Tubb4a, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
H22 |
H24 |
S420P |
Ser420Pro |
NP_001074440.1 (Tubb1) |
M. musculus |
R0117:Tubb1, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
H24 |
Δ421-424, E |
Δ421-424, insert Glu |
NP_116616.1 (TUB2) |
S. cerevisiae |
Cold sensitive microtubules |
Huffaker et al. 1988. J Cell Biol 106:1997-2010 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H24 |
E421A |
Glu421Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D417A, recessive lethal; kinesin binding |
Reijo et al. 1994. Mol Biol Cell 5:29-43, Uchimura et al. 2006. EMBO J 25:5932-41 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
H24 |
E421K |
Glu421Lys |
Q9BVA1 (TUBB2B) |
H. sapiens |
congenital fibrosis of the extraocular muscles (CFEOM) and polymicrogyria |
Cederquist et al. 2012. Hum Mol Genet 21:5484-99 |
Homo sapiens, human |
|
|
|
|
H24 |
Y422C |
Tyr422Cys |
BAC54932.1 (M40) |
H. sapiens |
Epothilone resistant |
He et al. 2001. Mol Cancer Ther 1:3-10 |
Homo sapiens, human |
|
|
|
|
|
Y422H |
Tyr422His |
NP_080749.2 (Tubb6) |
M. musculus |
IGL02634:Tubb6, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
H24 |
C424C* |
Cys424 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
|
H24 |
C425C* |
Cys425 |
Q9N2N6.1 |
E. focardii |
Correlated with cold stable microtubules |
Chiappori et al. 2012. Proteins 80:1154-60 |
Euplotes focardii, extremophile, Antarctic ciliate |
|
|
|
|
|
E431A |
Glu431Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D432A, dominant lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
E431X |
Glu431Stop |
NP_116616.1 (TUB2) |
S. cerevisiae |
Increased benomyl sensitive |
Aiken et al. 2014. Curr Biol. 24:1295-1303 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D432A |
Asp432Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E431A, dominant lethal |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D433A |
Asp433Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E434A and E435A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D433E |
Asp433Glu |
NP_524290.2 (B2tD) |
D. melanogaster |
With A434G, specifies ability to make central pair microtubules in flagellar axoneme |
Nielsen et al. 2001. Curr Biol 11:529-33 |
Drosophila melanogaster, fruit fly |
|
|
|
|
|
A434G |
Ala434Gly |
NP_524290.2 (B2tD) |
D. melanogaster |
With D433E, specifies ability to make central pair microtubules in flagellar axoneme |
Nielsen et al. 2001. Curr Biol 11:529-33 |
Drosophila melanogaster, fruit fly |
|
|
|
|
|
E434A |
Glu434Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D433A and E435A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
E435A |
Glu435Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D433A and E434A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D437A |
Asp437Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E438A, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
E437D |
Glu437Asp |
P41352 |
T. thermophila |
With E438D and E439D, lethal cytokinesis defect |
Thazhath et al. 2002. Nat Cell Biol 4:256-9 |
Tetrahymena thermophila |
|
|
|
|
|
G437S |
Gly437Ser |
BAC54932.1 (M40) |
H. sapiens |
Paclitaxel resistant |
de Castro et al. 2003. Lung Cancer 41:41-8 |
Homo sapiens, human |
|
|
|
|
|
E438A |
Glu438Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D437A, wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
E438D |
Glu438Asp |
P41352 |
T. thermophila |
With E437D and E439D, lethal cytokinesis defect |
Thazhath et al. 2002. Nat Cell Biol 4:256-9 |
Tetrahymena thermophila |
|
|
|
|
|
E439D |
Glu439Asp |
P41352 |
T. thermophila |
With E437D and E438D, lethal cytokinesis defect |
Thazhath et al. 2002. Nat Cell Biol 4:256-9 |
Tetrahymena thermophila |
|
|
|
|
|
N439X |
Asn439Stop |
NP_116616.1 (TUB2) |
S. cerevisiae |
Increased benomyl sensitive |
Aiken et al. 2014. Curr Biol. 24:1295-1303 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D441A |
Asp441Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
Wild-type |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D441E |
Asp441Glu |
NP_075768.1 (Tubb3) |
M. musculus |
R5256:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
L444L* |
Leu444 |
AAC78686.1 (β1-tubulin) |
G. morhua |
Cold stable microtubules |
Modig et al. 1999. Cell Motil Cytoskeleton 42:315-30 |
Gadus morhua, extremophile, Atlantic cod, fish |
|
|
|
|
|
Q446X |
Gln446Stop |
NP_116616.1 (TUB2) |
S. cerevisiae |
Increased benomyl sensitive |
Aiken et al. 2014. Curr Biol. 24:1295-1303 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
D449A |
Asp449Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E450A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
K450R |
Lys450Arg |
NP_075768.1 (Tubb3) |
M. musculus |
R2091:Tubb3, viable heterozygote, ENU mutagenesis |
Mutagenetix |
Mus musculus, mouse |
|
|
|
|
|
E454A |
Glu454Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E457A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
E450A |
Glu450Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With D449A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|
|
|
|
|
E457A |
Glu457Ala |
NP_116616.1 (TUB2) |
S. cerevisiae |
With E454A, benomyl supersensitive |
Reijo et al. 1994. Mol Biol Cell 5:29-43 |
Saccharomyces cerevisiae, yeast |
|