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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12887: Variant p.Asp336Val

Protoheme IX farnesyltransferase, mitochondrial
Gene: COX10
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Variant information Variant position: help 336 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 Aspartate (D) to Valine (V) at position 336 (D336V, p.Asp336Val). 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 Change from medium size and acidic (D) to medium size and hydrophobic (V) 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 336 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 GILYSWQFPHFNALSWGLRE D YSRGGYCMMSVTHPGLCRRV 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                         GILYSWQFPHFNALSWGLREDYSRGGYCMMSVTHPGLCR-RV

Mouse                         GILYSWQFPHFNALSWGLREDYSRGGYCMMSVTHPALCR-R

Slime mold                    TFMYIWQIPHFLALSQVLREQYRGAGYKMLSVTHEKKTVDR

Baker's yeast                 GLLFAWQFPHFNTLSHNIRNEYKNAGYVMTAWKNPLLNA-R

Fission yeast                 AMLFAWQFPHFNAFSTMVKDDYKKCGYQMMAWKNPALNA-R


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.