Results for the protein: P06132

Results for the Protein: P06132

2507533

7389

UROD

NCBI, UniProt

DCUP_HUMAN RecName: Full=Uroporphyrinogen decarboxylase; Short=UPD; Short=URO-D

Known Diseases associated with this Protein:
  FAMILIAL PORPHYRIA CUTANEA TARDA (FPCT)
  HEPATOERYTHROPOIETIC PORPHYRIA (HEP)
  PORPHYRIA CUTANEA TARDA
  PORPHYRIA CUTANEA TARDA, INCLUDED
  PORPHYRIA, HEPATOERYTHROPOIETIC

48

5

12

0

41

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: HemE - COG0407 URO-D - pfam01208 CmuA_CmuC_like - cd03308 URO-D_like - cd03465 Mta_CmuA_like - cd03307 URO-D - cd00717 URO-D_CIMS_like - cd00465	Swiss-Prot Protein: P06132 Identical to: NP_000365 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CmuA_CmuC_like	cd03308	0.00055	14	359
URO-D	cd00717	7e-213	20	359
Mta_CmuA_like	cd03307	1.4e-09	20	359
URO-D_like	cd03465	1.5e-109	20	359
URO-D_CIMS_like	cd00465	4.6e-150	32	359
URO-D	pfam01208	1.1e-185	14	360

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_007910	Disease	p.ALA80GLY	Hepatoerythropoietic porphyria (HEP)
Swiss-Prot	VAR_022569	Disease	p.ALA80SER	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_010985	Disease	p.ARG142GLN	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_007717	Disease	p.ARG292GLY	Hepatoerythropoietic porphyria (HEP)
Swiss-Prot	VAR_007916	Disease	p.ARG332HIS	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_022570	Disease	p.ARG144PRO	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_022572	Disease	p.ARG193PRO	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_060685	Polymorphism	p.ARG113THR	N/A
Swiss-Prot	VAR_007914	Disease	p.ASN304LYS	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_007714	Disease	p.GLU167LYS	Hepatoerythropoietic porphyria (HEP)
Swiss-Prot	VAR_022574	Disease	p.GLU218LYS	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_065558	Disease	p.GLY168ARG	Hepatoerythropoietic porphyria (HEP)
Swiss-Prot	VAR_007915	Disease	p.GLY318ARG	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_022571	Disease	p.GLY156ASP	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_065559	Disease	p.GLY170ASP	Hepatoerythropoietic porphyria (HEP)
Swiss-Prot	VAR_022567	Disease	p.GLY25GLU	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_007715	Disease	p.GLY281GLU	Hepatoerythropoietic porphyria (HEP)
Swiss-Prot	VAR_022578	Disease	p.GLY303SER	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_007716	Disease	p.GLY281VAL	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_060686	Polymorphism	p.GLY303VAL	N/A
Swiss-Prot	VAR_009105	Disease	p.HIS220PRO	Hepatoerythropoietic porphyria (HEP)
Swiss-Prot	VAR_022576	Disease	p.ILE260THR	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_007917	Disease	p.ILE334THR	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_022577	Disease	p.LEU282ARG	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_010986	Disease	p.LEU161GLN	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_022573	Disease	p.LEU216GLN	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_007913	Disease	p.LEU253GLN	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_007912	Disease	p.LEU195PHE	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_060683	Polymorphism	p.LYS15GLU	N/A
Swiss-Prot	VAR_007911	Disease	p.MET165ARG	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_009108	Disease	p.MET324THR	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_009106	Disease	p.PHE229LEU	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_022575	Disease	p.PHE232LEU	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_022568	Disease	p.PHE46LEU	Hepatoerythropoietic porphyria (HEP)
Swiss-Prot	VAR_060684	Polymorphism	p.PRO106LEU	N/A
Swiss-Prot	VAR_009103	Disease	p.PRO62LEU	Hepatoerythropoietic porphyria (HEP)
Swiss-Prot	VAR_067457	Polymorphism	p.PRO77LEU	N/A
Swiss-Prot	VAR_010988	Disease	p.PRO235SER	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_010987	Disease	p.SER219PHE	Familial porphyria cutanea tarda (FPCT)
Swiss-Prot	VAR_009107	Disease	p.TYR311CYS	Hepatoerythropoietic porphyria (HEP)
Swiss-Prot	VAR_009104	Disease	p.VAL134GLN	Hepatoerythropoietic porphyria (HEP)
OMIM	613521.0005	Disease	p.ARG292GLY	PORPHYRIA, HEPATOERYTHROPOIETIC
OMIM	613521.0012	Disease	p.ARG332HIS	PORPHYRIA CUTANEA TARDA
OMIM	613521.0011	Disease	p.ASN304LYS	PORPHYRIA CUTANEA TARDA
OMIM	613521.0014	Disease	p.GLN116TER	PORPHYRIA CUTANEA TARDA
OMIM	613521.0008	Disease	p.GLU314GLU	PORPHYRIA CUTANEA TARDA
OMIM	613521.0004	Disease	p.GLU167LYS	PORPHYRIA, HEPATOERYTHROPOIETIC
OMIM	613521.0002	Disease	p.GLY281GLU	PORPHYRIA, HEPATOERYTHROPOIETIC\|\|PORPHYRIA CUTANEA TARDA, INCLUDED
OMIM	613521.0001	Disease	p.GLY281VAL	PORPHYRIA CUTANEA TARDA
OMIM	613521.0010	Disease	p.LEU195PHE	PORPHYRIA CUTANEA TARDA
OMIM	613521.0009	Disease	p.MET165ARG	PORPHYRIA CUTANEA TARDA
OMIM	613521.0006	Disease	p.PRO62LEU	PORPHYRIA, HEPATOERYTHROPOIETIC
OMIM	613521.0007	Disease	p.TYR311CYS	PORPHYRIA, HEPATOERYTHROPOIETIC

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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