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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43819: Variant p.Arg114His

Protein SCO2 homolog, mitochondrial
Gene: SCO2
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Variant information Variant position: help 114 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 Histidine (H) at position 114 (R114H, p.Arg114His). 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 (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 MYP6; remains stable in mitochondria; reduces the level of the protein copurifying with COA6 by 80%. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 114 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 266 The length of the canonical sequence.
Location on the sequence: help LRQAAVGQGDFHLLDHRGRA R CKADFRGQWVLMYFGFTHCP 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                         LR---QAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCP

Mouse                         LR---QAAVGQGDFSLLDHKGQPRCKADFRGQWVLMYFGFT

Bovine                        LR---QAAVGQGDFSLLDHRGRVRCKADFRGQWVLLYFGFT

Zebrafish                     LR---KVALGQGDFHLLDHTGQRRTKRDFLGHWVLLYFGFT

Baker's yeast                 NRAYGSVALG-GPFNLTDFNGKPFTEENLKGKFSILYFGFS

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 – 266 Protein SCO2 homolog, mitochondrial
Topological domain 79 – 266 Mitochondrial intermembrane
Domain 85 – 259 Thioredoxin
Binding site 133 – 133
Beta strand 113 – 115



Literature citations
Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.
Pacheu-Grau D.; Bareth B.; Dudek J.; Juris L.; Voegtle F.N.; Wissel M.; Leary S.C.; Dennerlein S.; Rehling P.; Deckers M.;
Cell Metab. 21:823-833(2015)
Cited for: INTERACTION WITH COA6; CHARACTERIZATION OF VARIANT MYP6 HIS-114; CHARACTERIZATION OF VARIANT MC4DN2 TRP-171; Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
Tran-Viet K.N.; Powell C.; Barathi V.A.; Klemm T.; Maurer-Stroh S.; Limviphuvadh V.; Soler V.; Ho C.; Yanovitch T.; Schneider G.; Li Y.J.; Nading E.; Metlapally R.; Saw S.M.; Goh L.; Rozen S.; Young T.L.;
Am. J. Hum. Genet. 92:820-826(2013)
Cited for: VARIANTS MYP6 HIS-114; LYS-140 AND VAL-259;
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.