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UniProtKB/Swiss-Prot Q86WW8: Variant p.Ala53Pro

Cytochrome c oxidase assembly factor 5
Gene: COA5
Chromosomal location: 2q11.2
Variant information

Variant position:  53
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Proline (P) at position 53 (A53P, p.Ala53Pro).
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:  Change from small size and hydrophobic (A) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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

Involvement in disease:  Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (CEMCOX3) [MIM:616500]: An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation. {ECO:0000269|PubMed:21457908}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CEMCOX3.
Any additional useful information about the variant.

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



Sequence information

Variant position:  53
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  74
The length of the canonical sequence.

Location on the sequence:   QEGKSPRQCLKEGYCNSLKY  A FFECKRSVLDNRARFRGRKG
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                         QEGKSPRQCLKEGYCNSLKYAFFECKRSVLDNRARFRGRKG

Mouse                         QEGKSPRQCLKEGNCRALQYSFFECKRSMLDARSRFRGRKG

Bovine                        KEGKSPRQCLKEGNCKALKYSFFECKRSMLDARSRFRGRKG

Xenopus laevis                QEGKSPKECLKEGYCKALQVTFFECKRSILDNRARFRGRKG

Xenopus tropicalis            QEGKSPKECLKEGYCKALQVTFFECKRSILDTRARFRGRKG

Zebrafish                     KEGKKPSECLKEGHCRSMQVAFFECKRSMLDTRSRFRGRKG

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 74 Cytochrome c oxidase assembly factor 5
Domain 27 – 65 CHCH
Motif 47 – 57 Cx9C motif
Modified residue 37 – 37 Phosphoserine
Disulfide bond 30 – 57


Literature citations

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
Huigsloot M.; Nijtmans L.G.; Szklarczyk R.; Baars M.J.; van den Brand M.A.; Hendriksfranssen M.G.; van den Heuvel L.P.; Smeitink J.A.; Huynen M.A.; Rodenburg R.J.;
Am. J. Hum. Genet. 88:488-493(2011)
Cited for: FUNCTION; INVOLVEMENT IN CEMCOX3; VARIANT CEMCOX3 PRO-53;

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.