UniProtKB/Swiss-Prot P00846: Variant p.Ile14Val

ATP synthase subunit a
Gene: MT-ATP6
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Variant information Variant position:

14 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 14 (I14V, p.Ile14Val). 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 rs3020563 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MNENLFASFIAPT I LGLPAAVLIILFPPLLIPTS 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                         MNENLFAS-FIAPTILGL------------------PAAVLIILFPPLLIPTS--

Gorilla                       MNENLFAS-FIAPTILGL----------------

                              MNENLFAS-FAAPSMMGL----------------

Chimpanzee                    MNENLFAS-FAAPTILGL----------------

Mouse                         MNENLFAS-FITPTMMGF----------------

Rat                           MNENLFAS-FITPTMMGL----------------

Pig                           MNENLFAS-FIAPTMMGL----------------

Bovine                        MNENLFTS-FITPVILGL----------------

Rabbit                        MNENLFSS-FATPTLMGL----------------

Goat                          MNENLFTS-FITPMMLGL----------------

Sheep                         MNENLFAS-FITPMMFGL----------------

Cat                           MNENLFAS-FTTPTMMGL----------------

Horse                         MNENLFAS-FATPTMVGL----------------

Chicken                       MNLSFFDQ-FSSPCLLGI----------------

Xenopus laevis                MNLSFFDQ-FMSPVILGI----------------

Zebrafish                     MMTSFFDQ-FASPYLLGI----------------

Caenorhabditis elegans        MNQVYFLDIFMFVFVLQF----------------

Drosophila                    MMTNLFSV-FDPSAIFNF----------------

Slime mold                    -MKSLFEQ-FEIDLYCIIITRFFDISITTITVYL

Baker's yeast                 YITSPLDQ-FEIRTLFGLQSSFIDLSCLNLTTFS

Fission yeast                 FITSPLEQ-FELNNYFGFYLFNYHFDFSNFGFYL

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 – 226	ATP synthase subunit a
Transmembrane	6 – 26	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]; VARIANT VAL-14; Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography.
Maca-Meyer N.; Gonzalez A.M.; Pestano J.; Flores C.; Larruga J.M.; Cabrera V.M.;
BMC Genet. 4:15-15(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-14 AND ALA-112;

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.