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Results for the Protein: P06132
2507533

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
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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 ↕
HemECOG04074.2e-15411364
CmuA_CmuC_likecd033080.0005514359
URO-Dcd007177e-21320359
Mta_CmuA_likecd033071.4e-0920359
URO-D_likecd034651.5e-10920359
URO-D_CIMS_likecd004654.6e-15032359
URO-Dpfam012081.1e-18514360

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007910Diseasep.ALA80GLYHepatoerythropoietic porphyria (HEP)
Swiss-ProtVAR_022569Diseasep.ALA80SERFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_010985Diseasep.ARG142GLNFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_007717Diseasep.ARG292GLYHepatoerythropoietic porphyria (HEP)
Swiss-ProtVAR_007916Diseasep.ARG332HISFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_022570Diseasep.ARG144PROFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_022572Diseasep.ARG193PROFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_060685Polymorphismp.ARG113THRN/A
Swiss-ProtVAR_007914Diseasep.ASN304LYSFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_007714Diseasep.GLU167LYSHepatoerythropoietic porphyria (HEP)
Swiss-ProtVAR_022574Diseasep.GLU218LYSFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_065558Diseasep.GLY168ARGHepatoerythropoietic porphyria (HEP)
Swiss-ProtVAR_007915Diseasep.GLY318ARGFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_022571Diseasep.GLY156ASPFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_065559Diseasep.GLY170ASPHepatoerythropoietic porphyria (HEP)
Swiss-ProtVAR_022567Diseasep.GLY25GLUFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_007715Diseasep.GLY281GLUHepatoerythropoietic porphyria (HEP)
Swiss-ProtVAR_022578Diseasep.GLY303SERFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_007716Diseasep.GLY281VALFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_060686Polymorphismp.GLY303VALN/A
Swiss-ProtVAR_009105Diseasep.HIS220PROHepatoerythropoietic porphyria (HEP)
Swiss-ProtVAR_022576Diseasep.ILE260THRFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_007917Diseasep.ILE334THRFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_022577Diseasep.LEU282ARGFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_010986Diseasep.LEU161GLNFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_022573Diseasep.LEU216GLNFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_007913Diseasep.LEU253GLNFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_007912Diseasep.LEU195PHEFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_060683Polymorphismp.LYS15GLUN/A
Swiss-ProtVAR_007911Diseasep.MET165ARGFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_009108Diseasep.MET324THRFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_009106Diseasep.PHE229LEUFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_022575Diseasep.PHE232LEUFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_022568Diseasep.PHE46LEUHepatoerythropoietic porphyria (HEP)
Swiss-ProtVAR_060684Polymorphismp.PRO106LEUN/A
Swiss-ProtVAR_009103Diseasep.PRO62LEUHepatoerythropoietic porphyria (HEP)
Swiss-ProtVAR_067457Polymorphismp.PRO77LEUN/A
Swiss-ProtVAR_010988Diseasep.PRO235SERFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_010987Diseasep.SER219PHEFamilial porphyria cutanea tarda (FPCT)
Swiss-ProtVAR_009107Diseasep.TYR311CYSHepatoerythropoietic porphyria (HEP)
Swiss-ProtVAR_009104Diseasep.VAL134GLNHepatoerythropoietic porphyria (HEP)
OMIM613521.0005 Diseasep.ARG292GLYPORPHYRIA, HEPATOERYTHROPOIETIC
OMIM613521.0012 Diseasep.ARG332HISPORPHYRIA CUTANEA TARDA
OMIM613521.0011 Diseasep.ASN304LYSPORPHYRIA CUTANEA TARDA
OMIM613521.0014 Diseasep.GLN116TERPORPHYRIA CUTANEA TARDA
OMIM613521.0008 Diseasep.GLU314GLUPORPHYRIA CUTANEA TARDA
OMIM613521.0004 Diseasep.GLU167LYSPORPHYRIA, HEPATOERYTHROPOIETIC
OMIM613521.0002 Diseasep.GLY281GLUPORPHYRIA, HEPATOERYTHROPOIETIC||PORPHYRIA CUTANEA TARDA, INCLUDED
OMIM613521.0001 Diseasep.GLY281VALPORPHYRIA CUTANEA TARDA
OMIM613521.0010 Diseasep.LEU195PHEPORPHYRIA CUTANEA TARDA
OMIM613521.0009 Diseasep.MET165ARGPORPHYRIA CUTANEA TARDA
OMIM613521.0006 Diseasep.PRO62LEUPORPHYRIA, HEPATOERYTHROPOIETIC
OMIM613521.0007 Diseasep.TYR311CYSPORPHYRIA, HEPATOERYTHROPOIETIC



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