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UniProtKB/Swiss-Prot P00395: Variant p.Phe305Leu

Cytochrome c oxidase subunit 1
Gene: MT-CO1
Chromosomal location: M
Variant information

Variant position:  305
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Phenylalanine (F) to Leucine (L) at position 305 (F305L, p.Phe305Leu).
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 hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  305
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:   FIVWAHHMFTVGMDVDTRAY  F TSATMIIAIPTGVKVFSWLA
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                         FIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLA

                              FIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLA

Chimpanzee                    FIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLA

Mouse                         FIVWAHHMFTVGLDVDTRAYFTSATMIIAIPTGVKVFSWLA

Rat                           FIVWAHHMFTVGLDVDTRAYFTSATMIIAIPTGVKVFSWLA

Pig                           FIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLA

Bovine                        FIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLA

Rabbit                        FIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLA

Goat                          FIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLA

Sheep                         FIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLA

Cat                           FIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLA

Horse                         FIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLA

Chicken                       FIVWAHHMFTVRMDVDTRAYFTSATMIIAIPTGIKVFSWLA

Xenopus laevis                FIVWAHHMFTVDLNVDTRAYFTSATMIIAIPTGVKVFSWLA

Zebrafish                     FIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLA

Caenorhabditis elegans        CVVWAHHMYTVGMDLDSRAYFSAATMVIAVPTGVKVFSWLA

Drosophila                    FIVWAHHMFTVGMDVDTRAYFTSATMIIAVPTGIKIFSWLA

Slime mold                    FLVWAHHMYTVGLDVDTRAYFTAATMIIAIPTGIKIFSWLA

Baker's yeast                 FLVWSHHMYIVGLDADTRAYFTSATMIIAIPTGIKIFSWLA

Fission yeast                 LMVWSHHLFTVGLDVDTRAYFSAATMVIAIPTGIKIFSWLA

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.

TypePositionsDescription
Chain 1 – 513 Cytochrome c oxidase subunit 1
Transmembrane 303 – 325 Helical; Name=8
Metal binding 290 – 290 Copper B
Metal binding 291 – 291 Copper B


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.