Results for the protein: Q12882

Results for the Protein: Q12882

160332325

1806

DPYD

NCBI, UniProt

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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Tips:

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

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

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 ↕
TrxB	COG0492	3.6e-05	185	512
DHPD_FMN	cd02940	4.8e-219	532	834
DHOD_like	cd04739	2.1e-06	532	861
PyrD	COG0167	1.2e-57	532	853
DHOD_1B_like	cd04740	8.1e-29	534	853
DHOD_DHPD_FMN	cd02810	1.3e-131	535	833
DHOD_1A_like	cd04741	4.6e-08	535	838
DHOD_2_like	cd04738	2.2e-09	545	834
TIM_phosphate_bindin	cd04722	1.6e-60	546	817
COG1144	COG1144	5.1e-06	919	1010
COG1146	COG1146	8.8e-08	945	1012
DHO_dh	pfam01180	3e-16	532	838
Pyr_redox_2	pfam07992	2.1e-10	189	487

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_005177	Disease	p.ARG886HIS	Dihydropyrimidine dehydrogenase deficiency (DPYDD)
Swiss-Prot	VAR_005174	Disease	p.ARG235TRP	Dihydropyrimidine dehydrogenase deficiency (DPYDD)
dbSNP	rs1801265	Disease	p.CYS29ARG	Dihydropyrimidine dehydrogenase deficiency (DPYDD)
dbSNP	rs1801159	Polymorphism	p.ILE543VAL	N/A
dbSNP	rs61622928	Polymorphism	p.MET406ILE	N/A
dbSNP	rs2297595	Polymorphism	p.MET166VAL	N/A
dbSNP	rs1801158	Polymorphism	p.SER534ASN	N/A
dbSNP	rs1801160	Polymorphism	p.VAL732ILE	N/A
Swiss-Prot	VAR_005178	Polymorphism	p.VAL995PHE	N/A
OMIM	612779.0006	Disease	p.ARG886HIS	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
OMIM	612779.0002	Disease	p.ASP974VAL	5-@FLUOROURACIL TOXICITY
OMIM	612779.0004	Disease	p.CYS29ARG	DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

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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