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Results for the Protein: Q9BYV8
56748870

CEP41_HUMAN RecName: Full=Centrosomal protein of 41 kDa; Short=Cep41; AltName: Full=Testis-specific gene A14 protein

Known Diseases associated with this Protein:
  JOUBERT SYNDROME 12/15, DIGENIC
  JOUBERT SYNDROME 15
  JOUBERT SYNDROME 9/15, DIGENIC
4
6
4
0
6
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Default View:

RHOD - cd00158
Rhodanese - pfam00581
RHOD - smart00450


Swiss-Prot Protein: Q9BYV8
Identical to: NP_061188
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RHODcd001581.6e-14155258
Rhodanesepfam005818.1e-13160260
RHODsmart004502.1e-09169263

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067058Polymorphismp.ARG360CYSN/A
Swiss-ProtVAR_067055Polymorphismp.ARG179HISN/A
Swiss-ProtVAR_067057Polymorphismp.CYS240GLYN/A
Swiss-ProtVAR_067054Polymorphismp.GLN89GLUN/A
Swiss-ProtVAR_067053Polymorphismp.MET36THRN/A
Swiss-ProtVAR_067056Polymorphismp.PRO206ALAN/A
OMIM610523.0006 Diseasep.ARG360CYSJOUBERT 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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