UniProtKB/Swiss-Prot P03915: Variant p.Ile257Val

NADH-ubiquinone oxidoreductase chain 5
Gene: MT-ND5
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Variant information Variant position:

257 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 257 (I257V, p.Ile257Val). 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 rs2853501 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MEGPTPVSALLHSSTMVVAG I FLLIRFHPLAENSPLIQTLT 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                         MEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLT

Gorilla                       MEGPTPVSALLHSSTMVVAGVFLLIRFRHLAENNSLAQTLT

                              MEGPTPVSALLHSSTMVVAGVFLLIRFHPLMEHNQTIQTLT

Chimpanzee                    MEGPTPVSALLHSSTMVVAGIFLLIRFYPLAENNPLIQTLT

Mouse                         MEGPTPVSALLHSSTMVVAGIFLLVRFHPLTTNNNFILTTM

Rat                           MEGPTPVSALLHSSTMVVAGIFLMIRFHPLTSNNSTIMTAM

Pig                           MEGPTPVSALLHSSTMVVAGVFLLIRFYPLMETNKLVQTMT

Bovine                        MEGPTPVSALLHSSTMVVAGIFLLIRFYPLTENNKYIQSIT

Rabbit                        MEGPTPVSALLHSSTMVVAGVFLLIRFYPLLENNKTAQTLI

Sheep                         MEGPTPVSALLHSSTMVVAGIFLLIRFYPLTENNKFGQSIM

Cat                           MEGPTPVSALLHSSTMVVAGVFLLIRFYPLMEQNKTMQTLT

Horse                         MEGPTPVSALLHSSTMVVAGVFLLIRFHPLMENNKTIQSLT

Chicken                       MEGPTPVSALLHSSTMVVAGIFLLIRTHPFLSSNKTALTTC

                              MEGPTPVSALLHSSTMVVAGVFLLIRFHPLAENNPLIQTLT

Xenopus laevis                MEGPTPVSALLHSSTMVVAGIFLLIRISPMMNNNQTALTIC

Zebrafish                     MEGPTPVSALLHSSTMVVAGIFLLIRLHPIMETNKLAPTIC

Caenorhabditis elegans        MSAPTPVSSLVHSSTLVTAGLILLMNFNNLVMQKDFI-SFV

Drosophila                    MAAPTPVSALVHSSTLVTAGVYLLIRFNIILSTSWLGQ-LM

Slime mold                    MEGPTPVSALLHAATMVTAGVFLVLRTSPLLSYSITILNIL

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 – 603	NADH-ubiquinone oxidoreductase chain 5
Transmembrane	241 – 261	Helical

Literature citations
Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.
Horai S.; Hayasaka K.; Kondo R.; Tsugane K.; Takahata N.;
Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-211; VAL-257 AND VAL-314; 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]; VARIANT VAL-257;

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.