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                         QDATSPIMEELITFHDHALMI-I-FLICFLVLYALFLTL-----TTKL

Gorilla                       QDATSPIMEELITFHDHALMI-I-FLICFLVLYALFLTL--

                              QDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML--

Rhesus macaque                QDATSPVMEELITFHDHAFMA-M-SLISFLVLYALLSTL--

Chimpanzee                    QDATSPIMEELIIFHDHALMI-I-FLICFLVLYALFLTL--

Mouse                         QDATSPIMEELMNFHDHTLMI-V-FLISSLVLYIISLML--

Rat                           QDATSPIMEELTNFHDHTLMI-V-FLISSLVLYIISLML--

Pig                           QDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML--

Bovine                        QDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML--

Rabbit                        QDASSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML--

Goat                          QDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML--

Sheep                         QDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML--

Cat                           QDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISLML--

Horse                         QDATSPIMEELLHFHDHTLMI-V-FLISSLVLYIISSML--

Chicken                       QDASSPIMEELVEFHDHALMV-A-LAICSLVLYLLTLML--

Xenopus laevis                QDAASPIMEELLHFHDHTLMA-V-FLISTLVLYIITIMM--

Zebrafish                     QDAASPVMEELLCFHDHALMI-V-FLISTLVLYIIIAMV--

Caenorhabditis elegans        QHSLFASYMDWFHSFNCSLLLGVLVFVTLLFGYLIFGTF--

Drosophila                    QDSASPLMEQLIFFHDHALLI-L-VMITVLVGYLMFMLF--

Baker's yeast                 QDSATPNQEGILELHDNIMFY-L-LVILGLVSWMLYTIV-M

Fission yeast                 QDGASPSYLGVTHLNDYLMFY-LTFIFIGVIYAICKAVIEY

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.