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Results for the Protein: P30793
399536

GCH1_HUMAN RecName: Full=GTP cyclohydrolase 1; AltName: Full=GTP cyclohydrolase I; Short=GTP-CH-I

Known Diseases associated with this Protein:
  AUTOSOMAL RECESSIVE
  AUTOSOMAL RECESSIVE, INCLU
  DYSTONIA 5 (DYT5)
  DYSTONIA, DOPA-RESPONSIVE
  DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,
  GTP CYCLOHYDROLASE 1 DEFICIENCY (GCH1D)
  HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
51
1
14
0
38
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Swiss-Prot Protein: P30793
Identical to: NP_000152, NP_001019195
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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_016889Diseasep.ALA74VALDystonia 5 (DYT5)
Swiss-ProtVAR_002643Diseasep.ARG184HISGTP cyclohydrolase 1 deficiency (GCH1D)
Swiss-ProtVAR_002635Diseasep.ARG88PRODystonia 5 (DYT5)
Swiss-ProtVAR_002642Diseasep.ARG178SERDystonia 5 (DYT5)
Swiss-ProtVAR_016907Diseasep.ARG249SERDystonia 5 (DYT5)
Swiss-ProtVAR_016906Diseasep.ARG241TRPDystonia 5 (DYT5)
Swiss-ProtVAR_002636Diseasep.ARG88TRPDystonia 5 (DYT5)
Swiss-ProtVAR_016895Diseasep.ASP115ASNDystonia 5 (DYT5)
Swiss-ProtVAR_002638Diseasep.ASP134VALDystonia 5 (DYT5)
Swiss-ProtVAR_016897Diseasep.CYS141ARGDystonia 5 (DYT5)
Swiss-ProtVAR_002639Diseasep.CYS141TRPDystonia 5 (DYT5)
Swiss-ProtVAR_016900Diseasep.GLN180ARGDystonia 5 (DYT5)
Swiss-ProtVAR_016890Diseasep.GLY83ALADystonia 5 (DYT5)
Swiss-ProtVAR_002646Diseasep.GLY203ARGDystonia 5 (DYT5)
Swiss-ProtVAR_016894Diseasep.GLY108ASPGTP cyclohydrolase 1 deficiency (GCH1D)
Swiss-ProtVAR_002632Polymorphismp.GLY15ASPN/A
Swiss-ProtVAR_002645Diseasep.GLY201GLUDystonia 5 (DYT5)
Swiss-ProtVAR_016892Diseasep.GLY90VALDystonia 5 (DYT5)
Swiss-ProtVAR_002640Diseasep.HIS144PRODystonia 5 (DYT5)
Swiss-ProtVAR_002641Diseasep.HIS153PRODystonia 5 (DYT5)
Swiss-ProtVAR_016896Diseasep.ILE135LYSDystonia 5 (DYT5)
Swiss-ProtVAR_016898Diseasep.LEU163ARGDystonia 5 (DYT5)
Swiss-ProtVAR_016888Diseasep.LEU71GLNDystonia 5 (DYT5)
Swiss-ProtVAR_002634Diseasep.LEU79PRODystonia 5 (DYT5)
Swiss-ProtVAR_002648Diseasep.LYS224ARGGTP cyclohydrolase 1 deficiency (GCH1D)
Swiss-ProtVAR_016893Diseasep.MET102ARGDystonia 5 (DYT5)
Swiss-ProtVAR_002647Diseasep.MET211ILEGTP cyclohydrolase 1 deficiency (GCH1D)
Swiss-ProtVAR_002637Diseasep.MET102LYSDystonia 5 (DYT5)
Swiss-ProtVAR_016905Diseasep.MET221THRGTP cyclohydrolase 1 deficiency (GCH1D)
Swiss-ProtVAR_016903Diseasep.MET211VALDystonia 5 (DYT5)
Swiss-ProtVAR_016904Diseasep.MET213VALDystonia 5 (DYT5)
Swiss-ProtVAR_002649Diseasep.PHE234SERDystonia 5 (DYT5)
Swiss-ProtVAR_016902Diseasep.PRO199LEUDystonia 5 (DYT5)
Swiss-ProtVAR_002633Diseasep.PRO23LEUDystonia 5 (DYT5)
Swiss-ProtVAR_016899Diseasep.SER176THRDystonia 5 (DYT5)
Swiss-ProtVAR_054112Diseasep.THR106ILEDystonia 5 (DYT5)
Swiss-ProtVAR_002644Diseasep.THR186LYSDystonia 5 (DYT5)
Swiss-ProtVAR_016901Diseasep.VAL191ILEDystonia 5 (DYT5)
OMIM600225.0014 Diseasep.ALA196SERDYSTONIA, DOPA-RESPONSIVE
OMIM600225.0020 Diseasep.ARG184HISHYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
OMIM600225.0016 Diseasep.ARG249SERDYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,||AUTOSOMAL RECESSIVE
OMIM600225.0001 Diseasep.ARG88TRPDYSTONIA, DOPA-RESPONSIVE
OMIM600225.0002 Diseasep.ASP134VALDYSTONIA, DOPA-RESPONSIVE
OMIM600225.0018 Diseasep.GLN48TERDYSTONIA, DOPA-RESPONSIVE
OMIM600225.0012 Diseasep.GLY108ASPDYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,||AUTOSOMAL RECESSIVE
OMIM600225.0004 Diseasep.GLY201GLUDYSTONIA, DOPA-RESPONSIVE
OMIM600225.0008 Diseasep.HIS144PRODYSTONIA, DOPA-RESPONSIVE
OMIM600225.0015 Diseasep.ILE135LYSDYSTONIA, DOPA-RESPONSIVE
OMIM600225.0013 Diseasep.LYS224ARGDYSTONIA, DOPA-RESPONSIVE||DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,||AUTOSOMAL RECESSIVE, INCLU
OMIM600225.0017 Diseasep.MET211ILEHYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
OMIM600225.0011 Diseasep.MET221THRDYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,||AUTOSOMAL RECESSIVE
OMIM600225.0022 Diseasep.PRO199ALADYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,||AUTOSOMAL RECESSIVE



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