UniProtKB/Swiss-Prot P00156: Variant p.Ile164Val

Cytochrome b
Gene: MT-CYB
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Variant information Variant position:

164 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 164 (I164V, p.Ile164Val). 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 rs386829239 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TVITNLLSAIPYIGTDLVQW I WGGYSVDSPTLTRFFTFHFI 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                         TVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFI

Gorilla                       TVITNLLSAIPYIGTDLVQWVWGGYSVDSPTLTRFFTFHFI

                              TVITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFI

Rhesus macaque                TVITNLLSAIPYIGTNLVQWIWGGYAIDSPTLTRFFTLHFI

Chimpanzee                    TVITNLLSAIPYIGTDLVQWVWGGYSVDSPTLTRFFTFHFI

Mouse                         TVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFI

Rat                           TVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFI

Pig                           TVITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFI

Bovine                        TVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFI

Rabbit                        TVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFI

Goat                          TVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFI

Sheep                         TVITNLLSAIPYIGTNLVEWIWGGFSVDKATLTRFFAFHFI

Cat                           TVITNLLSAIPYIGTELVEWIWGGFSVDKATLTRFFGFHFI

Horse                         TVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFI

Chicken                       TVITNLFSAIPYIGHTLVEWAWGGFSVDNPTLTRFFALHFL

Xenopus laevis                TVITNLLSAIPYIGNVLVQWIWGGFSVDNATLTRFFAFHFL

Zebrafish                     TVITNLLSAVPYVGDTLVQWIWGGFSVDNATLTRFFAFHFL

Caenorhabditis elegans        VVITSLLSVIPIWGPTIVTWIWSGFGVTGATLKFFFVLHFL

Drosophila                    TVITNLLSAIPYLGMDLVQWLWGGFAVDNATLTRFFTFHFI

Slime mold                    TVITNLVTVLPVIGEDIVIWLWGGFNVDNPTLNRFFSLHYL

Baker's yeast                 TVITNLFSAIPFVGNDIVSWLWGGFSVSNPTIQRFFALHYL

Fission yeast                 TVITNLLSAVPFIGDDLVHLLWGGFSVSNPTLNRFFSLHYL

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 – 380	Cytochrome b
Binding site	182 – 182	axial binding residue
Helix	157 – 165

Literature citations
Major genomic mitochondrial lineages delineate early human expansions.
Maca-Meyer N.; Gonzalez A.M.; Larruga J.M.; Flores C.; Cabrera V.M.;
BMC Genet. 2:13-13(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378; VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-ILE-ALA-190 DELINS VAL-THR; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368;

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.