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Results for the Protein: NP_001244087
380692319

centrosomal protein of 41 kDa isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  JOUBERT SYNDROME 12/15, DIGENIC
  JOUBERT SYNDROME 15
  JOUBERT SYNDROME 9/15, DIGENIC
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Default View:

RHOD - cd00158
Rhodanese - pfam00581
RHOD - smart00450




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RHODcd001581.4e-12155258
Rhodanesepfam005812.1e-09160260
RHODsmart004502.9e-05169263

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM610523.0006 Diseasep.ARG288CYSJOUBERT SYNDROME 9/15, DIGENIC
OMIM610523.0004 Diseasep.ARG179HISJOUBERT SYNDROME 12/15, DIGENIC
OMIM610523.0005 Diseasep.MET36THRJOUBERT SYNDROME 9/15, DIGENIC
OMIM610523.0007 Diseasep.SER28TERJOUBERT SYNDROME 15



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