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Results for the Protein: P09417
118572639

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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FabG - COG1028


Swiss-Prot Protein: P09417
Identical to: NP_000311
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FabGCOG10281.1e-056228

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021769Diseasep.GLN66ARGHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_021770Diseasep.GLY149ARGHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_021767Diseasep.GLY17ARGHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_021768Diseasep.GLY18ASPHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_006960Diseasep.GLY23ASPHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_006967Diseasep.GLY151SERHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_006969Diseasep.GLY170SERHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_008122Diseasep.GLY17VALHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_006968Diseasep.HIS158TYRHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_008121Diseasep.LEU14PROHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_006962Diseasep.LEU74PROHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_006970Diseasep.PHE212CYSHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_006965Diseasep.PRO145LEUHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_013027Polymorphismp.SER51THRN/A
Swiss-ProtVAR_006961Diseasep.TRP36ARGHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_006963Diseasep.TRP108GLYHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
Swiss-ProtVAR_006966Diseasep.TYR150CYSHyperphenylalaninemia, BH4-deficient, C (HPABH4C)
OMIM612676.0002 Diseasep.GLY23ASPHYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
OMIM612676.0004 Diseasep.TRP36ARGHYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
OMIM612676.0003 Diseasep.TRP108GLYHYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
OMIM612676.0007 Diseasep.TRP90TERHYPERPHENYLALANINEMIA, BH4-DEFICIENT, C
OMIM612676.0006 Diseasep.TYR150CYSHYPERPHENYLALANINEMIA, BH4-DEFICIENT, C



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