Results for the protein: Q12887

Results for the Protein: Q12887

292495084

1352

COX10

NCBI, UniProt

COX10_HUMAN RecName: Full=Protoheme IX farnesyltransferase, mitochondrial; AltName: Full=Heme O synthase; Flags: Precursor

Known Diseases associated with this Protein:
  DUE TO
  ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY
  LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
  MITOCHONDRIAL COMPLEX IV DEFICIENCY
  MITOCHONDRIAL COMPLEX IV DEFICIENCY (MT-C4D)

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Default View: CyoE - COG0109 UbiA - COG0382 UbiA - pfam01040	Swiss-Prot Protein: Q12887 Identical to: NP_001294 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
UbiA	COG0382	5.8e-07	141	432
UbiA	pfam01040	2.3e-27	166	426

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2072279	Polymorphism	p.ARG159GLN	N/A
Swiss-Prot	VAR_026563	Disease	p.ASN204LYS	Mitochondrial complex IV deficiency (MT-C4D)
Swiss-Prot	VAR_026565	Disease	p.ASP336GLY	Mitochondrial complex IV deficiency (MT-C4D)
Swiss-Prot	VAR_026566	Disease	p.ASP336VAL	Mitochondrial complex IV deficiency (MT-C4D)
Swiss-Prot	VAR_060234	Polymorphism	p.GLY340ASP	N/A
Swiss-Prot	VAR_064768	Polymorphism	p.LEU258HIS	N/A
Swiss-Prot	VAR_026564	Disease	p.PRO225LEU	Mitochondrial complex IV deficiency (MT-C4D)
dbSNP	rs16948978	Polymorphism	p.THR28ILE	N/A
Swiss-Prot	VAR_026562	Disease	p.THR196LYS	Mitochondrial complex IV deficiency (MT-C4D)
dbSNP	rs2230351	Polymorphism	p.THR62SER	N/A
dbSNP	rs16948986	Polymorphism	p.TYR97CYS	N/A
OMIM	602125.0001	Disease	p.ASN204LYS	MITOCHONDRIAL COMPLEX IV DEFICIENCY\|\|ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY\|\|DUE TO
OMIM	602125.0005	Disease	p.ASP336GLY	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
OMIM	602125.0004	Disease	p.ASP336VAL	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY
OMIM	602125.0003	Disease	p.PRO225LEU	MITOCHONDRIAL COMPLEX IV DEFICIENCY
OMIM	602125.0002	Disease	p.THR196LYS	MITOCHONDRIAL COMPLEX IV DEFICIENCY

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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