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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00846: Variant p.Ala80Thr

ATP synthase subunit a
Gene: MT-ATP6
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Variant information Variant position: help 80 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 Alanine (A) to Threonine (T) at position 80 (A80T, p.Ala80Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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 80 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 MHNTKGRTWSLMLVSLIIFI A TTNLLGLLPHSFTPTTQLSM 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                         MHNTKGRTWSL---MLVSLIIFI--ATTNLLGLLPHSFTPTTQLSM

Gorilla                       MHNAKGRTWSL---MLMWLIIFI--ATTNLLGLLPHSFTPT

                              IHNQKGRTWAL---MLMSLILFI--GSTNLLGLLPHSFTPT

Chimpanzee                    MHSTKGRTWSL---MLVSLIIFI--TTTNLLGLLPHSFTPT

Mouse                         IHTPKGRTWTL---MIVSLIMFI--GSTNLLGLLPHTFTPT

Rat                           IHTPKGRTWAL---MIVSLIMFI--GSTNLLGLLPHTFTPT

Pig                           IHNQKGQTWSL---MLMSLIMFI--GSTNILGLLPHSFTPT

Bovine                        IHNSKGQTWTL---MLMSLILFI--GSTNLLGLLPHSFTPT

Rabbit                        MHSPKGRTWSL---MLISLIMFI--GSTNLLGLLPHSFTPT

Goat                          IHNTKGQTWTL---MLMSLILFI--GSTNLLGLLPHSFTPT

Sheep                         IHNTKGQTWAL---MLMSLILFI--GSTNLLGLLPHSFTPT

Cat                           IHNHKGQTWAL---MLMSLILFI--GSTNLLGLLPHSFTPT

Horse                         IHNSKGQTWTL---MLMSLILFI--GSTNLLGLLPHSFTPT

Chicken                       PLNKAGHKWAL---LLTSLILML--LSINLLGLLPYTFTPT

Xenopus laevis                LTSP-GHKWAL---LLTSLMLLL--MSLNLLGLLPYTFTPT

Zebrafish                     PLNFSGHKWAL---LFASLMVFL--ITINLLGLLPYTFTPT

Caenorhabditis elegans        LVGVFSYTNTLPLSSVISIFTFIVLLTCCFGGYFTYSFCPC

Drosophila                    LLGPSGHNGSTF--IFISLFSLI--LFNNFMGLFPYIFTST

Slime mold                    -----GKPGILFFPFIMSLFLFV--LTLNVMGLIPLSFTVT

Baker's yeast                 ----GGKNWGLYFPMIFTLFMFI--FIANLISMIPYSFALS

Fission yeast                 SKTVSGQSYFP---FIWSLFVLI--LFSNLLRLIPYGYATT

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 68 – 88 Helical
Helix 69 – 85



Literature citations
Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America.
Silva W.A. Jr.; Bonatto S.L.; Holanda A.J.; Ribeiro-Dos-Santos A.K.; Paixao B.M.; Goldman G.H.; Abe-Sandes K.; Rodriguez-Delfin L.; Barbosa M.; Paco-Larson M.L.; Petzl-Erler M.L.; Valente V.; Santos S.E.; Zago M.A.;
Am. J. Hum. Genet. 71:187-192(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-80; TYR-90 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.