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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00395: Variant p.Ile280Thr

Cytochrome c oxidase subunit 1
Gene: MT-CO1
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Variant information Variant position: help 280 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 Isoleucine (I) to Threonine (T) at position 280 (I280T, p.Ile280Thr). 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 hydrophobic (I) to medium size and polar (T) 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

Variant description: help Found in two patients with acquired idiopathic sideroblastic anemia. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 513 The length of the canonical sequence.
Location on the sequence: help YYSGKKEPFGYMGMVWAMMS I GFLGFIVWAHHMFTVGMDVD 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                         YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD

                              YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD

Chimpanzee                    YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD

Mouse                         YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGLDVD

Rat                           YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGLDVD

Pig                           YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD

Bovine                        YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD

Rabbit                        YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD

Goat                          YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD

Sheep                         YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD

Cat                           YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD

Horse                         YYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVD

Chicken                       YYAGKKEPFGYMGMVWAMLSIGFLGFIVWAHHMFTVRMDVD

Xenopus laevis                YYSGKKEPFGYMGMVWAMMSIGLLGFIVWAHHMFTVDLNVD

Zebrafish                     YYAGKKEPFGYMGMVWAMMAIGLLGFIVWAHHMFTVGMDVD

Caenorhabditis elegans        YLTGKKEVFGALGMVYAILSIGLIGCVVWAHHMYTVGMDLD

Drosophila                    QESGKKETFGSLGMIYAMLAIGLLGFIVWAHHMFTVGMDVD

Slime mold                    KYS-NKGIFGVKGMISAMSAIGFLGFLVWAHHMYTVGLDVD

Baker's yeast                 TYS-KKPVFGEISMVYAMASIGLLGFLVWSHHMYIVGLDAD

Fission yeast                 SLA-HKPIFGKEGMLWAMLSIALLGLMVWSHHLFTVGLDVD

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 – 513 Cytochrome c oxidase subunit 1
Transmembrane 270 – 286 Helical; Name=VII
Binding site 290 – 290
Binding site 291 – 291



Literature citations
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia.
Gattermann N.; Retzlaff S.; Wang Y.L.; Hofhaus G.; Heinisch J.; Aul C.; Schneider W.;
Blood 90:4961-4972(1997)
Cited for: VARIANTS THR-273 AND THR-280; POSSIBLE INVOLVEMENT IN ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA; MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase.
Broker S.; Meunier B.; Rich P.; Gattermann N.; Hofhaus G.;
Eur. J. Biochem. 258:132-138(1998)
Cited for: VARIANTS THR-273 AND THR-280; POSSIBLE INVOLVEMENT IN ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA;
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.