Results for the protein: P30793

Results for the Protein: P30793

399536

2643

GCH1

NCBI, UniProt

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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Default View:	Swiss-Prot Protein: P30793 Identical to: NP_000152, NP_001019195 Default View:

Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_016889	Disease	p.ALA74VAL	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002643	Disease	p.ARG184HIS	GTP cyclohydrolase 1 deficiency (GCH1D)
Swiss-Prot	VAR_002635	Disease	p.ARG88PRO	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002642	Disease	p.ARG178SER	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016907	Disease	p.ARG249SER	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016906	Disease	p.ARG241TRP	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002636	Disease	p.ARG88TRP	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016895	Disease	p.ASP115ASN	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002638	Disease	p.ASP134VAL	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016897	Disease	p.CYS141ARG	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002639	Disease	p.CYS141TRP	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016900	Disease	p.GLN180ARG	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016890	Disease	p.GLY83ALA	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002646	Disease	p.GLY203ARG	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016894	Disease	p.GLY108ASP	GTP cyclohydrolase 1 deficiency (GCH1D)
Swiss-Prot	VAR_002632	Polymorphism	p.GLY15ASP	N/A
Swiss-Prot	VAR_002645	Disease	p.GLY201GLU	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016892	Disease	p.GLY90VAL	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002640	Disease	p.HIS144PRO	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002641	Disease	p.HIS153PRO	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016896	Disease	p.ILE135LYS	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016898	Disease	p.LEU163ARG	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016888	Disease	p.LEU71GLN	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002634	Disease	p.LEU79PRO	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002648	Disease	p.LYS224ARG	GTP cyclohydrolase 1 deficiency (GCH1D)
Swiss-Prot	VAR_016893	Disease	p.MET102ARG	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002647	Disease	p.MET211ILE	GTP cyclohydrolase 1 deficiency (GCH1D)
Swiss-Prot	VAR_002637	Disease	p.MET102LYS	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016905	Disease	p.MET221THR	GTP cyclohydrolase 1 deficiency (GCH1D)
Swiss-Prot	VAR_016903	Disease	p.MET211VAL	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016904	Disease	p.MET213VAL	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002649	Disease	p.PHE234SER	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016902	Disease	p.PRO199LEU	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002633	Disease	p.PRO23LEU	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016899	Disease	p.SER176THR	Dystonia 5 (DYT5)
Swiss-Prot	VAR_054112	Disease	p.THR106ILE	Dystonia 5 (DYT5)
Swiss-Prot	VAR_002644	Disease	p.THR186LYS	Dystonia 5 (DYT5)
Swiss-Prot	VAR_016901	Disease	p.VAL191ILE	Dystonia 5 (DYT5)
OMIM	600225.0014	Disease	p.ALA196SER	DYSTONIA, DOPA-RESPONSIVE
OMIM	600225.0020	Disease	p.ARG184HIS	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
OMIM	600225.0016	Disease	p.ARG249SER	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,\|\|AUTOSOMAL RECESSIVE
OMIM	600225.0001	Disease	p.ARG88TRP	DYSTONIA, DOPA-RESPONSIVE
OMIM	600225.0002	Disease	p.ASP134VAL	DYSTONIA, DOPA-RESPONSIVE
OMIM	600225.0018	Disease	p.GLN48TER	DYSTONIA, DOPA-RESPONSIVE
OMIM	600225.0012	Disease	p.GLY108ASP	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,\|\|AUTOSOMAL RECESSIVE
OMIM	600225.0004	Disease	p.GLY201GLU	DYSTONIA, DOPA-RESPONSIVE
OMIM	600225.0008	Disease	p.HIS144PRO	DYSTONIA, DOPA-RESPONSIVE
OMIM	600225.0015	Disease	p.ILE135LYS	DYSTONIA, DOPA-RESPONSIVE
OMIM	600225.0013	Disease	p.LYS224ARG	DYSTONIA, DOPA-RESPONSIVE\|\|DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,\|\|AUTOSOMAL RECESSIVE, INCLU
OMIM	600225.0017	Disease	p.MET211ILE	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
OMIM	600225.0011	Disease	p.MET221THR	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,\|\|AUTOSOMAL RECESSIVE
OMIM	600225.0022	Disease	p.PRO199ALA	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,\|\|AUTOSOMAL RECESSIVE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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