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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12887: Variant p.Pro225Leu

Protoheme IX farnesyltransferase, mitochondrial
Gene: COX10
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Variant information Variant position: help 225 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Proline (P) to Leucine (L) at position 225 (P225L, p.Pro225Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In MC4DN3. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 225 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 443 The length of the canonical sequence.
Location on the sequence: help SINQFFEVPFDSNMNRTKNR P LVRGQISPLLAVSFATCCAV The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFATCCAV

Mouse                         SINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFATCCAV

Slime mold                    IHNQEIEVQHDRKMPRTKDRPLVIGTINRGKAW--VGSIAL

Baker's yeast                 AINMGREPEFDRQMVRTQARPVVRGDVTPTQAFEFAALIGT

Fission yeast                 AFNQSMEPMLDCQMARTRSRPIPRGAIRPEYAWLFATLTGI


Literature citations
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
Antonicka H.; Leary S.C.; Guercin G.-H.; Agar J.N.; Horvath R.; Kennaway N.G.; Harding C.O.; Jaksch M.; Shoubridge E.A.;
Hum. Mol. Genet. 12:2693-2702(2003)
Cited for: VARIANTS MC4DN3 LYS-196; LEU-225; GLY-336 AND VAL-336;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.