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Results for the Protein: Q12882
160332325

DPYD_HUMAN RecName: Full=Dihydropyrimidine dehydrogenase [NADP(+)]; Short=DHPDHase; Short=DPD; AltName: Full=Dihydrothymine dehydrogenase; AltName: Full=Dihydrouracil dehydrogenase; Flags: Precursor

Known Diseases associated with this Protein:
  5-@FLUOROURACIL TOXICITY
  DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
  DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DPYDD)
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Default View:

GltD - COG0493
TrxB - COG0492
Pyr_redox_2 - pfam07992
PyrD - COG0167
DHOD_like - cd04739
DHPD_FMN - cd02940
DHO_dh - pfam01180
DHOD_1B_like - cd04740
DHOD_DHPD_FMN - cd02810
DHOD_1A_like - cd04741
DHOD_2_like - cd04738
TIM_phosphate_bindin - cd04722
COG1144 - COG1144
COG1146 - COG1146


Swiss-Prot Protein: Q12882
Identical to: NP_000101
   Default View:











Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GltDCOG04933.2e-6353513
TrxBCOG04923.6e-05185512
DHPD_FMNcd029404.8e-219532834
DHOD_likecd047392.1e-06532861
PyrDCOG01671.2e-57532853
DHOD_1B_likecd047408.1e-29534853
DHOD_DHPD_FMNcd028101.3e-131535833
DHOD_1A_likecd047414.6e-08535838
DHOD_2_likecd047382.2e-09545834
TIM_phosphate_bindincd047221.6e-60546817
COG1144COG11445.1e-069191010
COG1146COG11468.8e-089451012
DHO_dhpfam011803e-16532838
Pyr_redox_2pfam079922.1e-10189487

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_005177Diseasep.ARG886HISDihydropyrimidine dehydrogenase deficiency (DPYDD)
Swiss-ProtVAR_005174Diseasep.ARG235TRPDihydropyrimidine dehydrogenase deficiency (DPYDD)
dbSNPrs1801265 Diseasep.CYS29ARGDihydropyrimidine dehydrogenase deficiency (DPYDD)
dbSNPrs1801159 Polymorphismp.ILE543VALN/A
dbSNPrs61622928 Polymorphismp.MET406ILEN/A
dbSNPrs2297595 Polymorphismp.MET166VALN/A
dbSNPrs1801158 Polymorphismp.SER534ASNN/A
dbSNPrs1801160 Polymorphismp.VAL732ILEN/A
Swiss-ProtVAR_005178Polymorphismp.VAL995PHEN/A
OMIM612779.0006 Diseasep.ARG886HISDIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
OMIM612779.0002 Diseasep.ASP974VAL5-@FLUOROURACIL TOXICITY
OMIM612779.0004 Diseasep.CYS29ARGDIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY



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