Results for the protein: P50336

Results for the Protein: P50336

1709742

5498

PPOX

NCBI, UniProt

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 ↕
HemY	COG1232	5.3e-67	3	472
Amino_oxidase	pfam01593	5e-64	12	471

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070420	Disease	p.ALA397ASP	Variegate porphyria (VP)
Swiss-Prot	VAR_070424	Disease	p.ALA433PRO	Variegate porphyria (VP)
Swiss-Prot	VAR_070400	Disease	p.ALA172VAL	Variegate porphyria (VP)
Swiss-Prot	VAR_070402	Disease	p.ALA205VAL	Variegate porphyria (VP)
Swiss-Prot	VAR_003687	Disease	p.ARG152CYS	Variegate porphyria (VP)
Swiss-Prot	VAR_003688	Disease	p.ARG168CYS	Variegate porphyria (VP)
Swiss-Prot	VAR_070403	Disease	p.ARG217CYS	Variegate porphyria (VP)
Swiss-Prot	VAR_070398	Disease	p.ARG168HIS	Variegate porphyria (VP)
Swiss-Prot	VAR_003690	Polymorphism	p.ARG304HIS	N/A
Swiss-Prot	VAR_070392	Disease	p.ARG138PRO	Variegate porphyria (VP)
Swiss-Prot	VAR_070383	Disease	p.ARG38PRO	Variegate porphyria (VP)
Swiss-Prot	VAR_003686	Disease	p.ARG59TRP	Variegate porphyria (VP)
Swiss-Prot	VAR_070417	Disease	p.ASP349ALA	Variegate porphyria (VP)
Swiss-Prot	VAR_070394	Disease	p.ASP143VAL	Variegate porphyria (VP)
Swiss-Prot	VAR_070382	Disease	p.GLU34VAL	Variegate porphyria (VP)
Swiss-Prot	VAR_070414	Disease	p.GLY332ALA	Variegate porphyria (VP)
Swiss-Prot	VAR_070384	Disease	p.GLY40ALA	Variegate porphyria (VP)
Swiss-Prot	VAR_003689	Disease	p.GLY232ARG	Variegate porphyria (VP)
Swiss-Prot	VAR_070413	Disease	p.GLY330ARG	Variegate porphyria (VP)
Swiss-Prot	VAR_070419	Disease	p.GLY358ARG	Variegate porphyria (VP)
Swiss-Prot	VAR_070426	Disease	p.GLY448ARG	Variegate porphyria (VP)
Swiss-Prot	VAR_070428	Disease	p.GLY453ARG	Variegate porphyria (VP)
Swiss-Prot	VAR_070386	Disease	p.GLY57ARG	Variegate porphyria (VP)
Swiss-Prot	VAR_070378	Disease	p.GLY11ASP	Variegate porphyria (VP)
Swiss-Prot	VAR_070393	Disease	p.GLY139ASP	Variegate porphyria (VP)
Swiss-Prot	VAR_070399	Disease	p.GLY169GLU	Variegate porphyria (VP)
Swiss-Prot	VAR_070385	Disease	p.GLY40GLU	Variegate porphyria (VP)
Swiss-Prot	VAR_070377	Disease	p.GLY11SER	Variegate porphyria (VP)
Swiss-Prot	VAR_070406	Disease	p.GLY232SER	Variegate porphyria (VP)
Swiss-Prot	VAR_070429	Disease	p.GLY453VAL	Variegate porphyria (VP)
Swiss-Prot	VAR_070391	Disease	p.HIS106PRO	Variegate porphyria (VP)
Swiss-Prot	VAR_070381	Disease	p.HIS20PRO	Variegate porphyria (VP)
Swiss-Prot	VAR_070410	Disease	p.ILE283ASN	Variegate porphyria (VP)
Swiss-Prot	VAR_070379	Disease	p.ILE12THR	Variegate porphyria (VP)
Swiss-Prot	VAR_070380	Disease	p.LEU15PHE	Variegate porphyria (VP)
Swiss-Prot	VAR_070421	Disease	p.LEU401PHE	Variegate porphyria (VP)
Swiss-Prot	VAR_070395	Disease	p.LEU154PRO	Variegate porphyria (VP)
Swiss-Prot	VAR_070412	Disease	p.LEU295PRO	Variegate porphyria (VP)
Swiss-Prot	VAR_070425	Disease	p.LEU444PRO	Variegate porphyria (VP)
Swiss-Prot	VAR_070387	Disease	p.LEU73PRO	Variegate porphyria (VP)
Swiss-Prot	VAR_070390	Disease	p.LEU85PRO	Variegate porphyria (VP)
Swiss-Prot	VAR_070407	Disease	p.LEU236SER	Variegate porphyria (VP)
Swiss-Prot	VAR_070401	Disease	p.LEU178VAL	Variegate porphyria (VP)
Swiss-Prot	VAR_034395	Polymorphism	p.PRO256ARG	N/A
Swiss-Prot	VAR_070422	Disease	p.PRO420ARG	Variegate porphyria (VP)
Swiss-Prot	VAR_070388	Disease	p.SER76PHE	Variegate porphyria (VP)
Swiss-Prot	VAR_070418	Disease	p.SER350PRO	Variegate porphyria (VP)
Swiss-Prot	VAR_070427	Disease	p.SER450PRO	Variegate porphyria (VP)
dbSNP	rs11555523	Polymorphism	p.THR193ALA	N/A
Swiss-Prot	VAR_070405	Disease	p.TRP224ARG	Variegate porphyria (VP)
Swiss-Prot	VAR_070404	Disease	p.TRP224GLY	Variegate porphyria (VP)
Swiss-Prot	VAR_070416	Disease	p.TYR348CYS	Variegate porphyria (VP)
Swiss-Prot	VAR_070423	Disease	p.TYR422CYS	Variegate porphyria (VP)
Swiss-Prot	VAR_070409	Disease	p.VAL282ASP	Variegate porphyria (VP)
Swiss-Prot	VAR_070415	Disease	p.VAL335GLY	Variegate porphyria (VP)
Swiss-Prot	VAR_070389	Disease	p.VAL84GLY	Variegate porphyria (VP)
Swiss-Prot	VAR_070396	Disease	p.VAL158LEU	Variegate porphyria (VP)
Swiss-Prot	VAR_070397	Disease	p.VAL158MET	Variegate porphyria (VP)
Swiss-Prot	VAR_070411	Disease	p.VAL290MET	Variegate porphyria (VP)
OMIM	600923.0004	Disease	p.ARG168CYS	VARIEGATE PORPHYRIA
OMIM	600923.0006	Disease	p.ARG168HIS	VARIEGATE PORPHYRIA
OMIM	600923.0003	Disease	p.ARG59TRP	VARIEGATE PORPHYRIA
OMIM	600923.0007	Disease	p.ASP349ALA	VARIEGATE PORPHYRIA, HOMOZYGOUS
OMIM	600923.0002	Disease	p.GLY232ARG	VARIEGATE PORPHYRIA
OMIM	600923.0005	Disease	p.HIS20PRO	VARIEGATE PORPHYRIA
OMIM	600923.0012	Disease	p.ILE12THR	VARIEGATE PORPHYRIA, HOMOZYGOUS
OMIM	600923.0013	Disease	p.PRO256ARG	VARIEGATE PORPHYRIA, HOMOZYGOUS

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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