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Results for the Protein: Q9BVA1
74761283

TBB2B_HUMAN RecName: Full=Tubulin beta-2B chain

Known Diseases associated with this Protein:
  POLYMICROGYRIA, ASYMMETRIC
  POLYMICROGYRIA, SYMMETRIC
  POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (PMGYSA)
12
1
7
0
6
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Default View:

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


Swiss-Prot Protein: Q9BVA1
Identical to: NP_821080
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
beta_tubulincd021872426
gamma_tubulincd021887.7e-1132422
epsilon_tubulincd021907.8e-752425
Tubulin_FtsZcd002861.3e-1953371
delta_tubulincd021894.7e-343424
Tubulincd060594.9e-2283424
COG5023COG50231e-3011441
Tubulinpfam000911.5e-884224
Tubulin_Cpfam039536.2e-85261383
Tubulinsmart008641.3e-6346244
Tubulin_Csmart008655e-41246383

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063390Polymorphismp.CYS201SERN/A
Swiss-ProtVAR_063391Diseasep.ILE210THRPolymicrogyria, symmetric or asymmetric (PMGYSA)
Swiss-ProtVAR_063392Diseasep.LEU228PROPolymicrogyria, symmetric or asymmetric (PMGYSA)
Swiss-ProtVAR_063393Diseasep.PHE265LEUPolymicrogyria, symmetric or asymmetric (PMGYSA)
Swiss-ProtVAR_063389Diseasep.SER172PROPolymicrogyria, symmetric or asymmetric (PMGYSA)
Swiss-ProtVAR_063394Diseasep.THR312METPolymicrogyria, symmetric or asymmetric (PMGYSA)
OMIM612850.0005 Diseasep.ASN256SERPOLYMICROGYRIA, SYMMETRIC
OMIM612850.0004 Diseasep.ASP417ASNPOLYMICROGYRIA, SYMMETRIC
OMIM612850.0007 Diseasep.GLU421LYSPOLYMICROGYRIA, SYMMETRIC
OMIM612850.0006 Diseasep.LEU117PROPOLYMICROGYRIA, SYMMETRIC
OMIM612850.0002 Diseasep.LEU228PROPOLYMICROGYRIA, ASYMMETRIC
OMIM612850.0003 Diseasep.PHE265LEUPOLYMICROGYRIA, ASYMMETRIC
OMIM612850.0001 Diseasep.SER172PROPOLYMICROGYRIA, ASYMMETRIC



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