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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5JTZ9: Variant p.Gly965Arg

Alanine--tRNA ligase, mitochondrial
Gene: AARS2
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Variant information Variant position: help 965 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Glycine (G) to Arginine (R) at position 965 (G965R, p.Gly965Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In LKENP. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 965 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 985 The length of the canonical sequence.
Location on the sequence: help AVCSHMGGKAWGSRVVAQGT G STTDLEAALSIAQTYALSQL 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                         AVCSHMGG-----KAWGSRVVAQGTGSTTD------LEAALSIAQTYALSQL

Mouse                         AVCSHMGG-----KAWGSRVVAQGTGHTAD------LEAAL

Rat                           AVCSHMGG-----KAWGSPVIAQGTGHTAD------LEAAL

Caenorhabditis elegans        -----------------------------------------

Drosophila                    SFADTFNGQIAAPKGQNPQAVCNMKGRRVSNLFEEQLEQAM

Slime mold                    QLFKSIGMG----KGGGNKLMANASIQPLNNEILNSILNWS
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 24 – 985 Alanine--tRNA ligase, mitochondrial
Beta strand 958 – 966



Literature citations
Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C.; Diodato D.; Kevelam S.H.; Haack T.B.; Wong L.J.; Salomons G.S.; Baruffini E.; Melchionda L.; Mariotti C.; Strom T.M.; Meitinger T.; Prokisch H.; Chapman K.; Colley A.; Rocha H.; Ounap K.; Schiffmann R.; Salsano E.; Savoiardo M.; Hamilton E.M.; Abbink T.E.; Wolf N.I.; Ferrero I.; Lamperti C.; Zeviani M.; Vanderver A.; Ghezzi D.; van der Knaap M.S.;
Neurology 82:2063-2071(2014)
Cited for: INVOLVEMENT IN LKENP; VARIANTS LKENP CYS-50; LYS-405 AND ARG-965; VARIANTS VAL-77; PHE-131 DEL; CYS-199 AND MET-730; CHARACTERIZATION OF VARIANT LKENP CYS-50;
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.