UniProtKB/Swiss-Prot P00846: Variant p.Phe193Leu

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

193 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 Phenylalanine (F) to Leucine (L) at position 193 (F193L, p.Phe193Leu). 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 large size and aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs1603222077 [ dbSNP | Ensembl ]

Sequence information Variant position:

193 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:

LIGSATLAMSTINLPSTLII F TILILLTILEIAVALIQAYV 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                         LIGSATLAMSTINLPSTLIIFT---ILILLTILEIAVALIQAYV

Gorilla                       LIGSATLAMSTTNLPSTLIIFT---VLILLTMLEIAVALIQ

                              LIGGATLALINISATTAFITFI---ILILLTILEFAVALIQ

Chimpanzee                    LIGSATLALSTINLPYALIIFT---ILILLTILEIAVALIQ

Mouse                         LIGGATLVLMNISPPTATITFI---ILLLLTILEFAVALIQ

Rat                           LIGGATLVLMDISPPTATITFI---ILLLLTVLEFAVALIQ

Pig                           LIGGATLALLNINTMTAFITFT---ILILLTILEFAVALIQ

Bovine                        LIGGATLALMSISTTTALITFT---ILILLTILEFAVAMIQ

Rabbit                        LIGGAALALVSISPTTALITFI---ILILLTILEFAVALIQ

Goat                          LIGGATLALTSISPTTALITFI---ILILLTILEFELGTRE

Sheep                         LIGGATLALMSINTTTALITFI---ILILLTVLEFAVAMIQ

Cat                           LIGGAALALMNISTSIALITFT---ILILLTILEFAVALIQ

Horse                         LIGGATLALMSISPSTALITFI---ILILLTILEFAVAMIQ

Chicken                       LISTATIALLPMMPSISALTAL---ILFLLTILEVAVAMIQ

Xenopus laevis                LIATAAFVLLSIMPTVAILTSI---VLFLLTLLEIAVAMIQ

Zebrafish                     LIATAVFVLLPMMPAVAILTAS---VLFLLTLLEVAVAMIQ

Caenorhabditis elegans        LYQGLELSMGDQY------IWL---SILAI-MMECFVFFIQ

Drosophila                    LLGNTGPSMSYILVTFLLMAQI---ALL---VLESAVAMIQ

Slime mold                    IIGVAAIYLMQFY-FIGILPWI---CVIAFMFLELGIAFLQ

Baker's yeast                 ILAGLTFNFMLINLFTLVFGFVPLAMILAIMMLEFAIGIIQ

Fission yeast                 ILGGLIFTFMGLNLITFIIGFLPITVLVAISLLEFGIAFIQ

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	189 – 209	Helical
Helix	186 – 223

Literature citations
Mitochondrial genome variation and the origin of modern humans.
Ingman M.; Kaessmann H.; Paeaebo S.; Gyllensten U.;
Nature 408:708-713(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS TYR-90; ALA-112 AND LEU-193; Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.
Ingman M.; Gyllensten U.;
Genome Res. 13:1600-1606(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-112 AND LEU-193;

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.