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UniProtKB/Swiss-Prot Q12887: Variant p.Pro225Leu

Protoheme IX farnesyltransferase, mitochondrial
Gene: COX10
Variant information

Variant position:  225
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  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:  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:  -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:  In MC4DN3.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  225
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  443
The length of the canonical sequence.

Location on the sequence:   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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFATCCAV

Mouse                         SINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFATCCAV

Slime mold                    IHNQEIEVQHDRKMPRTKDRPLVIGTINRGKAWVGSIALLT

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.