UniProtKB/Swiss-Prot P00846: Variant p.Ser182Leu

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

182 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 Serine (S) to Leucine (L) at position 182 (S182L, p.Ser182Leu). 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:

Change from small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs1603222032 [ dbSNP | Ensembl ]

Sequence information Variant position:

182 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:

ANITAGHLLMHLIGSATLAM S TINLPSTLIIFTILILLTIL 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                         ANITAGHLL-MHLIGSATLAMSTINLPSTLIIFT---ILILLTIL

Gorilla                       ANITAGHLL-MHLIGSATLAMSTTNLPSTLIIFT---VLIL

                              ANITAGHLL-IHLIGGATLALINISATTAFITFI---ILIL

Chimpanzee                    ANITAGHLL-MHLIGSATLALSTINLPYALIIFT---ILIL

Mouse                         ANITAGHLL-MHLIGGATLVLMNISPPTATITFI---ILLL

Rat                           ANITAGHLL-MHLIGGATLVLMDISPPTATITFI---ILLL

Pig                           ANITAGHLL-IHLIGGATLALLNINTMTAFITFT---ILIL

Bovine                        ANITAGHLL-IHLIGGATLALMSISTTTALITFT---ILIL

Rabbit                        ANITAGHLL-MHLIGGAALALVSISPTTALITFI---ILIL

Goat                          ANITAGHLL-IHLIGGATLALTSISPTTALITFI---ILIL

Sheep                         ANITAGHLL-IHLIGGATLALMSINTTTALITFI---ILIL

Cat                           ANITAGHLL-MHLIGGAALALMNISTSIALITFT---ILIL

Horse                         ANITAGHLL-MHLIGGATLALMSISPSTALITFI---ILIL

Chicken                       ANLTAGHLL-IQLISTATIALLPMMPSISALTAL---ILFL

Xenopus laevis                ANLTAGHLL-IQLIATAAFVLLSIMPTVAILTSI---VLFL

Zebrafish                     ANLTAGHLL-IQLIATAVFVLLPMMPAVAILTAS---VLFL

Caenorhabditis elegans        VNITVGHLVSMMLYQGLELSMGDQY------IWL---SILA

Drosophila                    ANMIAGHLL-LTLLGNTGPSMSYILVTFLLMAQI---ALL-

Slime mold                    ANMLAGHLL-IHIIGVAAIYLMQFY-FIGILPWI---CVIA

Baker's yeast                 SNILAGHLL-MVILAGLTFNFMLINLFTLVFGFVPLAMILA

Fission yeast                 ANIIAGHLT-MSILGGLIFTFMGLNLITFIIGFLPITVLVA

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	164 – 184	Helical
Turn	181 – 183

Literature citations
Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences.
Kong Q.-P.; Yao Y.-G.; Sun C.; Bandelt H.-J.; Zhu C.-L.; Zhang Y.-P.;
Am. J. Hum. Genet. 73:671-676(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-16; PRO-37; TYR-90; ALA-112; ALA-178; LEU-182 AND THR-204;

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.