UniProtKB/Swiss-Prot Q9Y6N1: Variant p.Ala244Pro

Cytochrome c oxidase assembly protein COX11, mitochondrial
Gene: COX11
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Variant information Variant position:

244 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Alanine (A) to Proline (P) at position 244 (A244P, p.Ala244Pro). 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
Variant description:

In MC4DN23; uncertain significance; decreased respiration-derived ATP levels in patient cells. Any additional useful information about the variant.

Sequence information Variant position:

244 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

276 The length of the canonical sequence.
Location on the sequence:

RLNPQEEVDMPVFFYIDPEF A EDPRMIKVDLITLSYTFFEA 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                         RLNPQEEVDMPVFFYIDPEFAEDPRMIKVDLITLSYTFFEA

Mouse                         RLNPQEEVDMPVFFYIDPEFAEDPRMVNVDLITLSYTFFEA

Bovine                        RLNPQEEVDMPVFFYIDPEFAEDPRMVNVDLITLSYTFFEA

Slime mold                    RINAHETIDMPVLFVIEPELLDDKNMKGVSDITLSYTFFKS

Baker's yeast                 KLAAGEEIDMPVFFFIDPDFASDPAMRNIDDIILHYTFFRA

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.

Type	Positions	Description
Topological domain	115 – 276	Mitochondrial intermembrane
Alternative sequence	217 – 276	CFCFEEQRLNPQEEVDMPVFFYIDPEFAEDPRMIKVDLITLSYTFFEAKEGHKLPVPGYN -> ASKLHRVYVLESWHL. In isoform 2.

Literature citations
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
Rius R.; Bennett N.K.; Bhattacharya K.; Riley L.G.; Yueksel Z.; Formosa L.E.; Compton A.G.; Dale R.C.; Cowley M.J.; Gayevskiy V.; Al Tala S.M.; Almehery A.A.; Ryan M.T.; Thorburn D.R.; Nakamura K.; Christodoulou J.;
Hum. Mutat. 43:1970-1978(2022)
Cited for: INVOLVEMENT IN MC4DN23; VARIANT MC4DN23 PRO-244;

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.