UniProtKB/Swiss-Prot P00395: Variant p.Met273Thr

Cytochrome c oxidase subunit 1
Gene: MT-CO1
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Variant information Variant position:

273 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Methionine (M) to Threonine (T) at position 273 (M273T, p.Met273Thr). 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 hydrophobic (M) to medium size and polar (T) 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:

Found in two patients with acquired idiopathic sideroblastic anemia. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs199476127 [ dbSNP | Ensembl ]

Sequence information Variant position:

273 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

513 The length of the canonical sequence.
Location on the sequence:

MISHIVTYYSGKKEPFGYMG M VWAMMSIGFLGFIVWAHHMF 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                         MISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

                              MISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

Chimpanzee                    MISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

Mouse                         IISHVVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

Rat                           IISHVVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

Pig                           MISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

Bovine                        MISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

Rabbit                        MISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

Goat                          MISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

Sheep                         MISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

Cat                           MISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

Horse                         MISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMF

Chicken                       MISHVVAYYAGKKEPFGYMGMVWAMLSIGFLGFIVWAHHMF

Xenopus laevis                MISHIVTYYSGKKEPFGYMGMVWAMMSIGLLGFIVWAHHMF

Zebrafish                     IISHVVAYYAGKKEPFGYMGMVWAMMAIGLLGFIVWAHHMF

Caenorhabditis elegans        IVSQSTLYLTGKKEVFGALGMVYAILSIGLIGCVVWAHHMY

Drosophila                    MISHIISQESGKKETFGSLGMIYAMLAIGLLGFIVWAHHMF

Slime mold                    LVSIILSKYS-NKGIFGVKGMISAMSAIGFLGFLVWAHHMY

Baker's yeast                 IISHVVSTYS-KKPVFGEISMVYAMASIGLLGFLVWSHHMY

Fission yeast                 VVSHIIPSLA-HKPIFGKEGMLWAMLSIALLGLMVWSHHLF

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.

Type	Positions	Description
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.