UniProtKB/Swiss-Prot P00403: Variant p.Ile30Val

Cytochrome c oxidase subunit 2
Gene: MT-CO2
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Variant information Variant position:

30 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 Isoleucine (I) to Valine (V) at position 30 (I30V, p.Ile30Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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.

Variant rs1569484167 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QDATSPIMEELITFHDHALM I IFLICFLVLYALFLTLTTKL 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                         QDATSPIMEELITFHDHALMIIFLICFLVLYAL--FLTL----TTKL

Gorilla                       QDATSPIMEELITFHDHALMIIFLICFLVLYAL--FLTL--

                              QDATSPIMEELLHFHDHTLMIVFLISSLVLYII--SLML--

Rhesus macaque                QDATSPVMEELITFHDHAFMAMSLISFLVLYAL--LSTL--

Chimpanzee                    QDATSPIMEELIIFHDHALMIIFLICFLVLYAL--FLTL--

Mouse                         QDATSPIMEELMNFHDHTLMIVFLISSLVLYII--SLML--

Rat                           QDATSPIMEELTNFHDHTLMIVFLISSLVLYII--SLML--

Pig                           QDATSPIMEELLHFHDHTLMIVFLISSLVLYII--SLML--

Bovine                        QDATSPIMEELLHFHDHTLMIVFLISSLVLYII--SLML--

Rabbit                        QDASSPIMEELLHFHDHTLMIVFLISSLVLYII--SLML--

Goat                          QDATSPIMEELLHFHDHTLMIVFLISSLVLYII--SLML--

Sheep                         QDATSPIMEELLHFHDHTLMIVFLISSLVLYII--SLML--

Cat                           QDATSPIMEELLHFHDHTLMIVFLISSLVLYII--SLML--

Horse                         QDATSPIMEELLHFHDHTLMIVFLISSLVLYII--SSML--

Chicken                       QDASSPIMEELVEFHDHALMVALAICSLVLYLL--TLML--

Xenopus laevis                QDAASPIMEELLHFHDHTLMAVFLISTLVLYII--TIMM--

Zebrafish                     QDAASPVMEELLCFHDHALMIVFLISTLVLYII--IAMV--

Caenorhabditis elegans        QHSLFASYMDWFHSFNCSLLLG-VLVFVTLLFG--YLIF--

Drosophila                    QDSASPLMEQLIFFHDHALLILVMITVLVGYLM--FMLF--

Baker's yeast                 QDSATPNQEGILELHDNIMFYLLVILGLVSWML--YTIVMT

Fission yeast                 QDGASPSYLGVTHLNDYLMFYLTFIFIGVIYAICKAVIEYN

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 – 227	Cytochrome c oxidase subunit 2
Transmembrane	15 – 45	Helical; Name=I

Literature citations
Mitochondrial COII sequences and modern human origins.
Ruvolo M.; Zehr S.; von Dornum M.; Pan D.; Chang B.; Lin J.;
Mol. Biol. Evol. 10:1115-1135(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-30 AND THR-148;

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.