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Results for the Protein: Q13049
20178303

TRI32_HUMAN RecName: Full=E3 ubiquitin-protein ligase TRIM32; AltName: Full=72 kDa Tat-interacting protein; AltName: Full=Tripartite motif-containing protein 32; AltName: Full=Zinc finger protein HT2A

Known Diseases associated with this Protein:
  BARDET-BIEDL SYNDROME 11
  BARDET-BIEDL SYNDROME 11 (BBS11)
  LIMB-GIRDLE MUSCULAR DYSTROPHY 2H (LGMD2H)
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H
6
3
3
0
6
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Default View:

RING - cd00162
RING - smart00184
zf-C3HC4 - pfam00097
BBOX - smart00336
BBOX - cd00021
NHL - pfam01436


Swiss-Prot Protein: Q13049
Identical to: NP_036342, NP_001093149
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BBOXcd000211.1e-0898138
zf-C3HC4pfam000971.1e-062064
NHLpfam014365e-08371398
NHLpfam014363.6e-06469496
NHLpfam014360.00035575602
NHLpfam014363.6e-06616643
RINGsmart001844.9e-132064
BBOXsmart003364.8e-0995138

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_038809Polymorphismp.ARG408CYSN/A
Swiss-ProtVAR_066295Polymorphismp.ARG299GLNN/A
Swiss-ProtVAR_042939Diseasep.ARG394HISLimb-girdle muscular dystrophy 2H (LGMD2H)
Swiss-ProtVAR_018725Diseasep.ASP487ASNLimb-girdle muscular dystrophy 2H (LGMD2H)
Swiss-ProtVAR_038807Diseasep.PRO130SERBardet-Biedl syndrome 11 (BBS11)
Swiss-ProtVAR_038808Polymorphismp.THR257ARGN/A
OMIM602290.0004 Diseasep.ARG394HISMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H
OMIM602290.0001 Diseasep.ASP487ASNMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H
OMIM602290.0002 Diseasep.PRO130SERBARDET-BIEDL SYNDROME 11



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