Results for the protein: P09417

Results for the Protein: P09417

118572639

5860

QDPR

NCBI, UniProt

DHPR_HUMAN RecName: Full=Dihydropteridine reductase; AltName: Full=HDHPR; AltName: Full=Quinoid dihydropteridine reductase

Known Diseases associated with this Protein:
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (HPABH4C)

21

1

5

0

17

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Default View: FabG - COG1028	Swiss-Prot Protein: P09417 Identical to: NP_000311 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_021769	Disease	p.GLN66ARG	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_021770	Disease	p.GLY149ARG	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_021767	Disease	p.GLY17ARG	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_021768	Disease	p.GLY18ASP	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_006960	Disease	p.GLY23ASP	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_006967	Disease	p.GLY151SER	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_006969	Disease	p.GLY170SER	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_008122	Disease	p.GLY17VAL	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_006968	Disease	p.HIS158TYR	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_008121	Disease	p.LEU14PRO	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_006962	Disease	p.LEU74PRO	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_006970	Disease	p.PHE212CYS	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_006965	Disease	p.PRO145LEU	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_013027	Polymorphism	p.SER51THR	N/A
Swiss-Prot	VAR_006961	Disease	p.TRP36ARG	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_006963	Disease	p.TRP108GLY	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-Prot	VAR_006966	Disease	p.TYR150CYS	Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)
OMIM	612676.0002	Disease	p.GLY23ASP	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
OMIM	612676.0004	Disease	p.TRP36ARG	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
OMIM	612676.0003	Disease	p.TRP108GLY	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
OMIM	612676.0007	Disease	p.TRP90TER	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
OMIM	612676.0006	Disease	p.TYR150CYS	HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C

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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