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Results for the Protein: P04350
93141323

TBB4A_HUMAN RecName: Full=Tubulin beta-4A chain; AltName: Full=Tubulin 5 beta; AltName: Full=Tubulin beta-4 chain

Known Diseases associated with this Protein:
  DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT
  DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (DYT4)
  LEUKODYSTROPHY, HYPOMYELINATING, 6
  LEUKODYSTROPHY, HYPOMYELINATING, 6 (HLD)
5
2
3
0
4
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Default View:

COG5023 - COG5023
beta_tubulin - cd02187
epsilon_tubulin - cd02190
gamma_tubulin - cd02188
alpha_tubulin - cd02186
Tubulin - cd06059
delta_tubulin - cd02189
Tubulin_FtsZ - cd00286
Tubulin - pfam00091
Tubulin - smart00864
Tubulin_C - smart00865
Tubulin_C - pfam03953


Swiss-Prot Protein: P04350
Identical to: NP_006078
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
beta_tubulincd021872426
alpha_tubulincd021861.2e-1332425
gamma_tubulincd021884.7e-1082422
epsilon_tubulincd021905e-732425
Tubulin_FtsZcd002862.1e-1933371
delta_tubulincd021893.3e-353424
Tubulincd060592.8e-2233424
COG5023COG50231.7e-3011441
Tubulinpfam000911.3e-874224
Tubulin_Cpfam039535.7e-83261383
Tubulinsmart008643.4e-6346244
Tubulin_Csmart008653.7e-40246383

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026044Polymorphismp.ALA365VALN/A
Swiss-ProtVAR_069798Diseasep.ARG2GLYDystonia 4, torsion, autosomal dominant (DYT4)
Swiss-ProtVAR_069799Diseasep.ASP249ASNLeukodystrophy, hypomyelinating, 6 (HLD)
Swiss-ProtVAR_052673Polymorphismp.ILE155METN/A
OMIM602662.0003 Diseasep.ALA271THRDYSTONIA 4, TORSION, AUTOSOMAL DOMINANT
OMIM602662.0001 Diseasep.ARG2GLYDYSTONIA 4, TORSION, AUTOSOMAL DOMINANT
OMIM602662.0002 Diseasep.ASP249ASNLEUKODYSTROPHY, HYPOMYELINATING, 6



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