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  Domain Name: epsilon_tubulin
The tubulin superfamily includes five distinct families, the alpha-, beta-, gamma-, delta-, and epsilon-tubulins and a sixth family (zeta-tubulin) which is present only in kinetoplastid protozoa. The epsilon-tubulins which are widespread but not ubiquitous among eukaryotes play a role in basal body/centriole morphogenesis.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 79
Total Disease Mutations Found: 54
This domain occurred 19 times on human genes (29 proteins).



  CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES 3A (CFEOM3A)
  CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
  CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (CDCBM1)
  CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
  DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT
  FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR
  INVOLVEMENT
  LEUKODYSTROPHY, HYPOMYELINATING, 6
  LEUKODYSTROPHY, HYPOMYELINATING, 6 (HLD)
  LISSENCEPHALY 3
  LISSENCEPHALY 3 (LIS3)
  MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
  MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED (MAD-TUBB1)
  POLYMICROGYRIA, ASYMMETRIC
  POLYMICROGYRIA, SYMMETRIC
  POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (PMGYSA)


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 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
nucleotide binding site





















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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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