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Results for the Protein: P24386
21431807
CHM

RAE1_HUMAN RecName: Full=Rab proteins geranylgeranyltransferase component A 1; AltName: Full=Choroideremia protein; AltName: Full=Rab escort protein 1; Short=REP-1; AltName: Full=TCD protein

Known Diseases associated with this Protein:
  CHOROIDEREMIA
  CHOROIDEREMIA (CHM)
10
0
7
0
3
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Swiss-Prot Protein: P24386
Identical to: NP_000381
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_008273Diseasep.GLN471LEUChoroideremia (CHM)
Swiss-ProtVAR_066847Diseasep.HIS507ARGChoroideremia (CHM)
Swiss-ProtVAR_066848Diseasep.LEU550PROChoroideremia (CHM)
OMIM300390.0008 Diseasep.ARG294TERCHOROIDEREMIA
OMIM300390.0007 Diseasep.CYS162TERCHOROIDEREMIA
OMIM300390.0009 Diseasep.CYS500TERCHOROIDEREMIA
OMIM300390.0004 Diseasep.GLU154TERCHOROIDEREMIA
OMIM300390.0011 Diseasep.HIS507ARGCHOROIDEREMIA
OMIM300390.0002 Diseasep.SER116TERCHOROIDEREMIA
OMIM300390.0003 Diseasep.SER158TERCHOROIDEREMIA



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