UniProtKB/Swiss-Prot P00395: Variant p.Gly224Ala

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

224 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 Glycine (G) to Alanine (A) at position 224 (G224A, p.Gly224Ala). 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 glycine (G) to small size and hydrophobic (A) 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

Sequence information Variant position:

224 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:

AGITMLLTDRNLNTTFFDPA G GGDPILYQHLFWFFGHPEVY 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                         AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

                              AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Chimpanzee                    AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Mouse                         AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Rat                           AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Pig                           AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Bovine                        AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Rabbit                        AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Goat                          AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Sheep                         AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Cat                           AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Horse                         AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Chicken                       AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Xenopus laevis                AGITMLLTDRNLNTTFFDPAGGGDPVLYQHLFWFFGHPEVY

Zebrafish                     AGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVY

Caenorhabditis elegans        GAITMLLTDRNLNTSFFDPSTGGNPLIYQHLFWFFGHPEVY

Drosophila                    GAITMLLTDRNLNTSFFDPAGGGDPILYQHLFWFFGHPEVY

Slime mold                    GGLTMLITDRNFETTFFDPIGGGDPILYQHLFWFFGHPEVY

Baker's yeast                 AGITMLLLDRNFNTSFFEVSGGGDPILYEHLFWFFGHPEVY

Fission yeast                 GGLFMLFSDRNLNTSFYAPEGGGDPVLYQHLFWFFGHPEVY

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	213 – 227	Mitochondrial intermembrane
Binding site	240 – 240
Binding site	244 – 244

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.