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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00846: Variant p.Phe117Leu

ATP synthase subunit a
Gene: MT-ATP6
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Variant information Variant position: help 117 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Phenylalanine (F) to Leucine (L) at position 117 (F117L, p.Phe117Leu). 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: help 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: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 117 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 226 The length of the canonical sequence.
Location on the sequence: help QLSMNLAMAIPLWAGTVIMG F RSKIKNALAHFLPQGTPTPL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         QLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPL

Gorilla                       QLSMNLAMAIPLWAGAVTTGFRSKTKNALAHLLPQGTPTPL

                              QLSMNLGMAIPLWAGTVITGFRYKTKASLAHFLPQGTPLPL

Chimpanzee                    QLSMNLAMAIPLWAGAVVMGFRFKTKNALAHFLPQGTPTPL

Mouse                         QLSMNLSMAIPLWAGAVITGFRHKLKSSLAHFLPQGTPISL

Rat                           QLSMNLSMAIPLWAGAVILGFRHKLKNSLAHFLPQGTPISL

Pig                           QLSMNLGMAIPLWSATVFTGFRYKTKTSLAHFLPQGTPALL

Bovine                        QLSMNLGMAIPLWAGAVITGFRNKTKASLAHFLPQGTPTPL

Rabbit                        QLSMNLGMAIPLWAGAVITGFRYKTKASLAHFLPQGTPIPL

Goat                          QLSMNLGMAIPLWAGAVITGFRNKTKASLAHFYPQGTPTPL

Sheep                         QLSMNLGMAIPLWGGAVITGFRNKTKASLAHFLPQGTPTPL

Cat                           QLSMNLGMAIPLWAGTVITGFRHKTKASLAHFLPQGTPVPL

Horse                         QLSMNLGMAIPLWAGTVFMGFRHKTKAALAHFLPQGTPIFL

Chicken                       QLSMNMALALPLWLATLLTGLRNQPSASLGHLLPEGTPTPL

Xenopus laevis                QLSLNMGLAVPLWLATVIMASK-PTNYALGHLLPEGTPTPL

Zebrafish                     QLSLNMGFAVPLWLATVIIGMKNQPTIALGHLLPEGTPIPL

Caenorhabditis elegans        MVEFTFVYAAVAWLSTLLT-FISSEK--FSVYMSKPGDTYL

Drosophila                    HLTLTLSLALPLWLCFMLYGWINHTQHMFAHLVPQGTPAIL

Slime mold                    QLLVTFTLAITIMIGITIWGFRIHGIKFLNIFVPSGIEPWL

Baker's yeast                 HLVFIISLSIVIWLGNTILGLYKHGWVFFSLFVPAGTPLPL

Fission yeast                 QLIFTLGLSISILIGATILGLQQHKAKVFGLFLPSGTPTPL

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 226 ATP synthase subunit a
Transmembrane 97 – 117 Helical
Helix 98 – 118



Literature citations
Natural selection shaped regional mtDNA variation in humans.
Mishmar D.; Ruiz-Pesini E.; Golik P.; Macaulay V.; Clark A.G.; Hosseini S.; Brandon M.; Easley K.; Chen E.; Brown M.D.; Sukernik R.I.; Olckers A.; Wallace D.C.;
Proc. Natl. Acad. Sci. U.S.A. 100:171-176(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-60; TYR-90; ALA-112; LEU-117 AND THR-192;
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.