Home News About DMDM Database Statistics Research Publications Contact  

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
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:



Swiss-Prot Protein: Q14117
Identical to: NP_001376
   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-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



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258