Results for the protein: NP

Results for the Protein: NP_001019242

66932972

2643

GCH1

NCBI

GTP cyclohydrolase 1 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  AUTOSOMAL RECESSIVE
  AUTOSOMAL RECESSIVE, INCLU
  DYSTONIA, DOPA-RESPONSIVE
  DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,
  HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B

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Default View: FolE - COG0302 GTP_cyclohydro1 - cd00642 TFold - cd00651 GTP_cyclohydroI - pfam01227	RefSeq Protein: NP_001019242 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GTP_cyclohydro1	cd00642	1.1e-84	66	212
TFold	cd00651	3.8e-09	127	212
GTP_cyclohydroI	pfam01227	1.2e-27	147	213

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	600225.0014	Disease	p.ALA196SER	DYSTONIA, DOPA-RESPONSIVE
OMIM	600225.0020	Disease	p.ARG184HIS	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
OMIM	600225.0016	Disease	p.ARG1SER	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.LYS1ARG	DYSTONIA, DOPA-RESPONSIVE\|\|DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA,\|\|AUTOSOMAL RECESSIVE, INCLU
OMIM	600225.0017	Disease	p.MET1ILE	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B
OMIM	600225.0011	Disease	p.MET1THR	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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