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Results for the Protein: Q13509
20455526

TBB3_HUMAN RecName: Full=Tubulin beta-3 chain; AltName: Full=Tubulin beta-4 chain; AltName: Full=Tubulin beta-III

Known Diseases associated with this Protein:
  CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES 3A (CFEOM3A)
  CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
  CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (CDCBM1)
  FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR
  INVOLVEMENT
21
0
9
0
12
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Default View:

alpha_tubulin - cd02186
epsilon_tubulin - cd02190
gamma_tubulin - cd02188
beta_tubulin - cd02187
Tubulin - cd06059
Tubulin_FtsZ - cd00286
delta_tubulin - cd02189
Tubulin - smart00864
Tubulin_C - smart00865


Swiss-Prot Protein: Q13509
Identical to: NP_006077
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
alpha_tubulincd021861.3e-1362425
beta_tubulincd021872426
gamma_tubulincd021882.4e-1122422
epsilon_tubulincd021902.1e-742425
Tubulin_FtsZcd002868.2e-1843371
delta_tubulincd021891.7e-363424
Tubulincd060595.6e-2183424
Tubulinsmart008645.1e-6046244
Tubulin_Csmart008651.3e-38246383

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062761Diseasep.ALA302THRCongenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-ProtVAR_066208Diseasep.ALA302VALCortical dysplasia, complex, with other brain malformations 1 (CDCBM1)
Swiss-ProtVAR_062759Diseasep.ARG262CYSCongenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-ProtVAR_062762Diseasep.ARG380CYSCongenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-ProtVAR_062758Diseasep.ARG62GLNCongenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-ProtVAR_062760Diseasep.ARG262HISCongenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-ProtVAR_062765Diseasep.ASP417ASNCongenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-ProtVAR_062764Diseasep.ASP417HISCongenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-ProtVAR_066207Diseasep.GLU205LYSCortical dysplasia, complex, with other brain malformations 1 (CDCBM1)
Swiss-ProtVAR_062763Diseasep.GLU410LYSCongenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-ProtVAR_066209Diseasep.MET323VALCortical dysplasia, complex, with other brain malformations 1 (CDCBM1)
Swiss-ProtVAR_066206Diseasep.THR178METCortical dysplasia, complex, with other brain malformations 1 (CDCBM1)
OMIM602661.0002 Diseasep.ALA302THRFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR||INVOLVEMENT
OMIM602661.0008 Diseasep.ALA302VALCORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
OMIM602661.0001 Diseasep.ARG262CYSFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR||INVOLVEMENT
OMIM602661.0004 Diseasep.ASP417ASNFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR||INVOLVEMENT
OMIM602661.0003 Diseasep.ASP417HISFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR||INVOLVEMENT
OMIM602661.0007 Diseasep.GLU205LYSCORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
OMIM602661.0005 Diseasep.GLU410LYSFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR||INVOLVEMENT
OMIM602661.0009 Diseasep.MET323VALCORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
OMIM602661.0006 Diseasep.THR178METCORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1



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