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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20674: Variant p.Arg107Cys

Cytochrome c oxidase subunit 5A, mitochondrial
Gene: COX5A
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Variant information Variant position: help 107 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 Arginine (R) to Cysteine (C) at position 107 (R107C, p.Arg107Cys). 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 large size and basic (R) to medium size and polar (C) 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 MC4DN20; decreased protein abundance in patient fibroblasts; decreased proteins abundance of mitochondrial respiratory chain complex IV in patient fibroblasts; no effect on respiratory chain complex IV assembly in patient fibroblasts; increased protein abundance of S1 complex IV intermediate in patient fibroblasts. Any additional useful information about the variant.


Sequence information Variant position: help 107 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 150 The length of the canonical sequence.
Location on the sequence: help KIIDAALRACRRLNDFASTV R ILEVVKDKAGPHKEIYPYVI 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                         KII---DAALRACRRLNDFASTVRILEVVKDKAGPH-K---EIYPYVI

Gorilla                       KII---DAALRACRRLNEFASTVRILEAVKDKAGPH-K---

Rhesus macaque                KII---DAALRACRRLNDFASTVRILEAVKDKAGPH-K---

Chimpanzee                    KII---DAALRACRRLNDFASTVRILEAVKDKAGPH-K---

Mouse                         KII---DAALRACRRLNDFASAVRILEVVKDKAGPH-K---

Rat                           KII---DAALRACRRLNDFASAVRILEVVKDKAGPH-K---

Bovine                        KII---DAALRACRRLNDFASAVRILEVVKDKAGPH-K---

Caenorhabditis elegans        KVV---EAALRACRRVNDFALAVRFLEAIKIKCGAQ-KNRD

Drosophila                    KII---EAGLRASRRVNDIALAIRWLEGCKDKCGDQKA---

Baker's yeast                 PVLNKGDSSFIAKGVAAGLLFSVGLFAVVRMAGGQDAK---
Sequence annotation in neighborhood: help 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 42 – 150 Cytochrome c oxidase subunit 5A, mitochondrial
Modified residue 87 – 87 N6-acetyllysine
Modified residue 113 – 113 N6-acetyllysine



Literature citations
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia and failure to thrive.
Baertling F.; Al-Murshedi F.; Sanchez-Caballero L.; Al-Senaidi K.; Joshi N.P.; Venselaar H.; van den Brand M.A.; Nijtmans L.G.; Rodenburg R.J.;
Hum. Mutat. 38:692-703(2017)
Cited for: INVOLVEMENT IN MC4DN20; VARIANT MC4DN20 CYS-107; CHARACTERIZATION OF VARIANT MC4DN20 CYS-107;
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.