UniProtKB/Swiss-Prot P00395: Variant p.Phe94Cys

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

94 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 Phenylalanine (F) to Cysteine (C) at position 94 (F94C, p.Phe94Cys). 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 large size and aromatic (F) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

94 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:

MIGGFGNWLVPLMIGAPDMA F PRMNNMSFWLLPPSLLLLLA 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                         MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLA

                              MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Chimpanzee                    MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLA

Mouse                         MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Rat                           MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Pig                           MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Bovine                        MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Rabbit                        MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Goat                          MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Sheep                         MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Cat                           MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Horse                         MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Chicken                       MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Xenopus laevis                MIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Zebrafish                     LIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLA

Caenorhabditis elegans        MIGGFGNWLLPLMLGAPDMSFPRLNNLSFWLLPTSMLLILD

Drosophila                    MIGGFGNWLVPLMLGAPDMAFPRMNNMSFWLLPPALSLLLV

Slime mold                    MLGGFANWFIPIMVGSPDVAFPRLNNISLWLIIVSFFLLLT

Baker's yeast                 LIGGFGNYLLPLMIGATDTAFPRINNIAFWVLPMGLVCLVT

Fission yeast                 LFGAFGNYLVPLMIGAPDVAYPRVNNFTFWLLPPALMLLLI

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
Topological domain	87 – 94	Mitochondrial matrix

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-10; CYS-94; LEU-155; ALA-224 AND LEU-305;

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.