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Results for the Protein: Q14117
3122049

DPYS_HUMAN RecName: Full=Dihydropyrimidinase; Short=DHP; Short=DHPase; AltName: Full=Dihydropyrimidine amidohydrolase; AltName: Full=Hydantoinase

Known Diseases associated with this Protein:
  DIHYDROPYRIMIDINASE DEFICIENCY
  DIHYDROPYRIMIDINASE DEFICIENCY (DHPD)
9
0
4
0
5
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Swiss-Prot Protein: Q14117
Identical to: NP_001376
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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_002271Diseasep.ARG490THRDihydropyrimidinase deficiency (DHPD)
Swiss-ProtVAR_002268Diseasep.GLN334ARGDihydropyrimidinase deficiency (DHPD)
Swiss-ProtVAR_002270Diseasep.GLY435ARGDihydropyrimidinase deficiency (DHPD)
Swiss-ProtVAR_002267Diseasep.THR68ARGDihydropyrimidinase deficiency (DHPD)
Swiss-ProtVAR_002269Diseasep.TRP360ARGDihydropyrimidinase deficiency (DHPD)
OMIM613326.0004 Diseasep.ARG412METDIHYDROPYRIMIDINASE DEFICIENCY
OMIM613326.0001 Diseasep.GLN334ARGDIHYDROPYRIMIDINASE DEFICIENCY
OMIM613326.0002 Diseasep.GLY435ARGDIHYDROPYRIMIDINASE DEFICIENCY
OMIM613326.0003 Diseasep.TRP360ARGDIHYDROPYRIMIDINASE DEFICIENCY



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