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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00403: Variant p.Thr187Met

Cytochrome c oxidase subunit 2
Gene: MT-CO2
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Variant information Variant position: help 187 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Threonine (T) to Methionine (M) at position 187 (T187M, p.Thr187Met). 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 medium size and polar (T) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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



Sequence information Variant position: help 187 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 227 The length of the canonical sequence.
Location on the sequence: help TLGLKTDAIPGRLNQTTFTA T RPGVYYGQCSEICGANHSFM 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                         TLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFM

Gorilla                       TLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFM

                              SLGLKTDAIPGRLNQTTLMAMRPGLYYGQCSEICGSNHSFM

Rhesus macaque                TLGLKTDAVPGRLNQTVFTATRPGVYYGQCSEICGANHSFM

Chimpanzee                    TLGLKTDAIPGRLNQTTFTATRPGVYYGQCSEICGANHSFM

Mouse                         SLGLKTDAIPGRLNQATVTSNRPGLFYGQCSEICGSNHSFM

Rat                           SLGLKTDAIPGRLNQATVTSNRPGLFYGQCSEICGSNHSFM

Pig                           SLGLKTDAIPGRLNQTTLMSTRPGLYYGQCSEICGSNHSFM

Bovine                        SLGLKTDAIPGRLNQTTLMSSRPGLYYGQCSEICGSNHSFM

Rabbit                        SLGLKTDAIPGRLNQATLISTRPGLFYGQCSEICGSNHSFM

Goat                          SLGLKTDAIPGRLNQTTLMSTRPGLFYGQCSEICGSNHSFM

Sheep                         SLGLKTDAIPGRLNQTTLMSTRPGLFYGQCSEICGSNHSFM

Cat                           SLGLKTDAIPGRLNQTTLMATRPGLYYGQCSEICGSNHSFM

Horse                         SLGLKTDAIPGRLNQTTLVASRPGLYYGQCSEICGSNHSFM

Chicken                       ALGVKTDAIPGRLNQTSFITTRPGVFYGQCSEICGANHSYM

Xenopus laevis                SLGVKTDAIPGRLHQTSFIATRPGVFYGQCSEICGANHSFM

Zebrafish                     SLGIKMDAVPGRLNQTAFIVSRPGVFYGQCSEICGANHSFM

Caenorhabditis elegans        SLSVKLDAMSGILSTFSYSFPMVGVFYGQCSEICGANHSFM

Drosophila                    ALGVKVDGTPGRLNQTNFFINRPGLFYGQCSEICGANHSFM

Baker's yeast                 SLGIKVDATPGRLNQVSALIQREGVFYGACSELCGTGHANM

Fission yeast                 SLGIKCDCIPGRLNQVSLSIDREGLFYGQCSELCGVLHSSM

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 1 – 227 Cytochrome c oxidase subunit 2
Topological domain 88 – 227 Mitochondrial intermembrane
Binding site 196 – 196
Binding site 196 – 196
Binding site 198 – 198
Binding site 198 – 198
Binding site 200 – 200
Binding site 200 – 200
Binding site 204 – 204
Binding site 207 – 207



Literature citations
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
Marzuki S.; Noer A.S.; Lertrit P.; Thyagarajan D.; Kapsa R.; Utthanaphol P.; Byrne E.;
Hum. Genet. 88:139-145(1991)
Cited for: VARIANTS ALA-11; PRO-123 AND MET-187;
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.