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  Domain Name: beta_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 alpha- and beta-tubulins are the major components of microtubules, while gamma-tubulin plays a major role in the nucleation of microtubule assembly. The delta- and epsilon-tubulins are widespread but unlike the alpha, beta, and gamma-tubulins they are not ubiquitous among eukaryotes. The alpha/beta-tubulin heterodimer is the structural subunit of microtubules. The alpha- and beta-tubulins share 40% amino-acid sequence identity, exist in several isotype forms, and undergo a variety of posttranslational modifications. The structures of alpha- and beta-tubulin are basically identical: each monomer is formed by a core of two beta-sheets surrounded by alpha-helices. The monomer structure is very compact, but can be divided into three regions based on function: the amino-terminal nucleotide-binding region, an intermediate taxol-binding region and the carboxy-terminal region which probably constitutes the binding surface for motor proteins.
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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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
nucleotide binding site
Taxol binding site
alpha/beta domain interfa
beta/alpha domain interfa



















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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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