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UniProtKB/Swiss-Prot Q5RI15: Variant p.Thr52Pro

Cytochrome c oxidase assembly protein COX20, mitochondrial
Gene: COX20
Variant information

Variant position:  52
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 Threonine (T) to Proline (P) at position 52 (T52P, p.Thr52Pro).
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 medium size and polar (T) 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 MC4DN11; reduced protein expression; defective mitochondrial respiratory chain complex IV assembly; decreased interaction with MT-CO2/COX2; increased interaction with TMEM177.
Any additional useful information about the variant.

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



Sequence information

Variant position:  52
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  118
The length of the canonical sequence.

Location on the sequence:   HSILYGSLGSVVAGFGHFLF  T SRIRRSCDVGVGGFILVTLG
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                         HSILYGSLGSVVAGFGHFLFTSRIRRSCDVGVGGFILVTLG

Mouse                         ESILYGSLGSIVTGLGHFLVTSRIRRSCDVGVGGFILVTLG

Zebrafish                     EAILHGAAGSVAAGLLHFLATSRVKRSFDVGVAGFMITTLG

Baker's yeast                 DAGMLGFSSMFLMGSIIFIYHKSPTKATNWAMSSLILGSIV

Fission yeast                 ESLITSVVCGLGVGCIHLFLRAPISRAANWGFGTYFGMSIV

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 2 – 118 Cytochrome c oxidase assembly protein COX20, mitochondrial
Topological domain 52 – 60 Mitochondrial matrix


Literature citations

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Szklarczyk R.; Wanschers B.F.; Nijtmans L.G.; Rodenburg R.J.; Zschocke J.; Dikow N.; van den Brand M.A.; Hendriks-Franssen M.G.; Gilissen C.; Veltman J.A.; Nooteboom M.; Koopman W.J.; Willems P.H.; Smeitink J.A.; Huynen M.A.; van den Heuvel L.P.;
Hum. Mol. Genet. 22:656-667(2013)
Cited for: VARIANT MC4DN11 PRO-52; CHARACTERIZATION OF VARIANT MC4DN11 PRO-52; FUNCTION; SUBCELLULAR LOCATION; TOPOLOGY; INTERACTION WITH MT-CO2;

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
Doss S.; Lohmann K.; Seibler P.; Arns B.; Klopstock T.; Zuehlke C.; Freimann K.; Winkler S.; Lohnau T.; Drungowski M.; Nuernberg P.; Wiegers K.; Lohmann E.; Naz S.; Kasten M.; Bohner G.; Ramirez A.; Endres M.; Klein C.;
J. Neurol. 261:207-212(2014)
Cited for: VARIANT MC4DN11 PRO-52; VARIANT SER-118;

The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.
Lorenzi I.; Oeljeklaus S.; Aich A.; Ronsoer C.; Callegari S.; Dudek J.; Warscheid B.; Dennerlein S.; Rehling P.;
Biochim. Biophys. Acta 1865:323-333(2017)
Cited for: CHARACTERIZATION OF VARIANT MC4DN11 PRO-52; IDENTIFICATION IN A COMPLEX WITH TMEM177; COA6; MT-CO2; COX18; SCO1 AND SCO2; INTERACTION WITH TMEM177; COA6; MT-CO2; SCO1 AND SCO2;

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.