Results for the protein: P36551

Results for the Protein: P36551

67476671

1371

CPOX

NCBI, UniProt

HEM6_HUMAN RecName: Full=Coproporphyrinogen-III oxidase, mitochondrial; Short=COX; Short=Coprogen oxidase; Short=Coproporphyrinogenase; Flags: Precursor

Known Diseases associated with this Protein:
  COPROPORPHYRIA
  COPROPORPHYRIA, DIGENIC
  HARDEROPORPHYRIA
  HEREDITARY COPROPORPHYRIA (HCP)

24

3

8

3

16

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Default View: HemF - COG0408 Coprogen_oxidas - pfam01218	Swiss-Prot Protein: P36551 Identical to: NP_000088 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Coprogen_oxidas	pfam01218	2.9e-213	150	453

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019068	Disease	p.ARG328CYS	Hereditary coproporphyria (HCP)
dbSNP	rs11921054	Polymorphism	p.ARG352CYS	N/A
Swiss-Prot	VAR_019069	Disease	p.ARG447CYS	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_002160	Disease	p.ARG331TRP	Hereditary coproporphyria (HCP)
dbSNP	rs1131857	Polymorphism	p.ASN272HIS	N/A
Swiss-Prot	VAR_002154	Disease	p.GLU201LYS	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_058005	Disease	p.GLY279ARG	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_002157	Disease	p.GLY280ARG	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_002152	Disease	p.GLY189SER	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_002153	Disease	p.GLY197TRP	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_002159	Disease	p.HIS295ASP	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_023445	Disease	p.LEU214ARG	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_002162	Disease	p.LYS404GLU	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_023446	Disease	p.PRO249ARG	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_002155	Disease	p.PRO249SER	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_019067	Disease	p.SER208PHE	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_002163	Disease	p.TRP427ARG	Hereditary coproporphyria (HCP)
Swiss-Prot	VAR_023444	Disease	p.VAL135ALA	Hereditary coproporphyria (HCP)
dbSNP	rs2228056	Polymorphism	p.VAL294ILE	N/A
OMIM	612732.0011	Disease	p.ARG328CYS	COPROPORPHYRIA
OMIM	612732.0009	Disease	p.ARG447CYS	COPROPORPHYRIA
OMIM	612732.0001	Disease	p.ARG331TRP	COPROPORPHYRIA
OMIM	612732.0008	Disease	p.GLN29TER	COPROPORPHYRIA
OMIM	612732.0013	Disease	p.GLY279ARG	COPROPORPHYRIA, DIGENIC
OMIM	612732.0006	Disease	p.HIS295ASP	COPROPORPHYRIA
OMIM	612732.0003	Disease	p.LYS404GLU	HARDEROPORPHYRIA
OMIM	612732.0010	Disease	p.SER208PHE	COPROPORPHYRIA

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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