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Results for the Protein: P50336
1709742

PPOX_HUMAN RecName: Full=Protoporphyrinogen oxidase; Short=PPO

Known Diseases associated with this Protein:
  VARIEGATE PORPHYRIA
  VARIEGATE PORPHYRIA (VP)
  VARIEGATE PORPHYRIA, HOMOZYGOUS
64
3
8
1
58
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Default View:

COG1233 - COG1233
HemY - COG1232
Amino_oxidase - pfam01593


Swiss-Prot Protein: P50336
Identical to: NP_001116236, NP_000300
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG1233COG12330.000191477
HemYCOG12325.3e-673472
Amino_oxidasepfam015935e-6412471

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070420Diseasep.ALA397ASPVariegate porphyria (VP)
Swiss-ProtVAR_070424Diseasep.ALA433PROVariegate porphyria (VP)
Swiss-ProtVAR_070400Diseasep.ALA172VALVariegate porphyria (VP)
Swiss-ProtVAR_070402Diseasep.ALA205VALVariegate porphyria (VP)
Swiss-ProtVAR_003687Diseasep.ARG152CYSVariegate porphyria (VP)
Swiss-ProtVAR_003688Diseasep.ARG168CYSVariegate porphyria (VP)
Swiss-ProtVAR_070403Diseasep.ARG217CYSVariegate porphyria (VP)
Swiss-ProtVAR_070398Diseasep.ARG168HISVariegate porphyria (VP)
Swiss-ProtVAR_003690Polymorphismp.ARG304HISN/A
Swiss-ProtVAR_070392Diseasep.ARG138PROVariegate porphyria (VP)
Swiss-ProtVAR_070383Diseasep.ARG38PROVariegate porphyria (VP)
Swiss-ProtVAR_003686Diseasep.ARG59TRPVariegate porphyria (VP)
Swiss-ProtVAR_070417Diseasep.ASP349ALAVariegate porphyria (VP)
Swiss-ProtVAR_070394Diseasep.ASP143VALVariegate porphyria (VP)
Swiss-ProtVAR_070382Diseasep.GLU34VALVariegate porphyria (VP)
Swiss-ProtVAR_070414Diseasep.GLY332ALAVariegate porphyria (VP)
Swiss-ProtVAR_070384Diseasep.GLY40ALAVariegate porphyria (VP)
Swiss-ProtVAR_003689Diseasep.GLY232ARGVariegate porphyria (VP)
Swiss-ProtVAR_070413Diseasep.GLY330ARGVariegate porphyria (VP)
Swiss-ProtVAR_070419Diseasep.GLY358ARGVariegate porphyria (VP)
Swiss-ProtVAR_070426Diseasep.GLY448ARGVariegate porphyria (VP)
Swiss-ProtVAR_070428Diseasep.GLY453ARGVariegate porphyria (VP)
Swiss-ProtVAR_070386Diseasep.GLY57ARGVariegate porphyria (VP)
Swiss-ProtVAR_070378Diseasep.GLY11ASPVariegate porphyria (VP)
Swiss-ProtVAR_070393Diseasep.GLY139ASPVariegate porphyria (VP)
Swiss-ProtVAR_070399Diseasep.GLY169GLUVariegate porphyria (VP)
Swiss-ProtVAR_070385Diseasep.GLY40GLUVariegate porphyria (VP)
Swiss-ProtVAR_070377Diseasep.GLY11SERVariegate porphyria (VP)
Swiss-ProtVAR_070406Diseasep.GLY232SERVariegate porphyria (VP)
Swiss-ProtVAR_070429Diseasep.GLY453VALVariegate porphyria (VP)
Swiss-ProtVAR_070391Diseasep.HIS106PROVariegate porphyria (VP)
Swiss-ProtVAR_070381Diseasep.HIS20PROVariegate porphyria (VP)
Swiss-ProtVAR_070410Diseasep.ILE283ASNVariegate porphyria (VP)
Swiss-ProtVAR_070379Diseasep.ILE12THRVariegate porphyria (VP)
Swiss-ProtVAR_070380Diseasep.LEU15PHEVariegate porphyria (VP)
Swiss-ProtVAR_070421Diseasep.LEU401PHEVariegate porphyria (VP)
Swiss-ProtVAR_070395Diseasep.LEU154PROVariegate porphyria (VP)
Swiss-ProtVAR_070412Diseasep.LEU295PROVariegate porphyria (VP)
Swiss-ProtVAR_070425Diseasep.LEU444PROVariegate porphyria (VP)
Swiss-ProtVAR_070387Diseasep.LEU73PROVariegate porphyria (VP)
Swiss-ProtVAR_070390Diseasep.LEU85PROVariegate porphyria (VP)
Swiss-ProtVAR_070407Diseasep.LEU236SERVariegate porphyria (VP)
Swiss-ProtVAR_070401Diseasep.LEU178VALVariegate porphyria (VP)
Swiss-ProtVAR_034395Polymorphismp.PRO256ARGN/A
Swiss-ProtVAR_070422Diseasep.PRO420ARGVariegate porphyria (VP)
Swiss-ProtVAR_070388Diseasep.SER76PHEVariegate porphyria (VP)
Swiss-ProtVAR_070418Diseasep.SER350PROVariegate porphyria (VP)
Swiss-ProtVAR_070427Diseasep.SER450PROVariegate porphyria (VP)
dbSNPrs11555523 Polymorphismp.THR193ALAN/A
Swiss-ProtVAR_070405Diseasep.TRP224ARGVariegate porphyria (VP)
Swiss-ProtVAR_070404Diseasep.TRP224GLYVariegate porphyria (VP)
Swiss-ProtVAR_070416Diseasep.TYR348CYSVariegate porphyria (VP)
Swiss-ProtVAR_070423Diseasep.TYR422CYSVariegate porphyria (VP)
Swiss-ProtVAR_070409Diseasep.VAL282ASPVariegate porphyria (VP)
Swiss-ProtVAR_070415Diseasep.VAL335GLYVariegate porphyria (VP)
Swiss-ProtVAR_070389Diseasep.VAL84GLYVariegate porphyria (VP)
Swiss-ProtVAR_070396Diseasep.VAL158LEUVariegate porphyria (VP)
Swiss-ProtVAR_070397Diseasep.VAL158METVariegate porphyria (VP)
Swiss-ProtVAR_070411Diseasep.VAL290METVariegate porphyria (VP)
OMIM600923.0004 Diseasep.ARG168CYSVARIEGATE PORPHYRIA
OMIM600923.0006 Diseasep.ARG168HISVARIEGATE PORPHYRIA
OMIM600923.0003 Diseasep.ARG59TRPVARIEGATE PORPHYRIA
OMIM600923.0007 Diseasep.ASP349ALAVARIEGATE PORPHYRIA, HOMOZYGOUS
OMIM600923.0002 Diseasep.GLY232ARGVARIEGATE PORPHYRIA
OMIM600923.0005 Diseasep.HIS20PROVARIEGATE PORPHYRIA
OMIM600923.0012 Diseasep.ILE12THRVARIEGATE PORPHYRIA, HOMOZYGOUS
OMIM600923.0013 Diseasep.PRO256ARGVARIEGATE PORPHYRIA, HOMOZYGOUS



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