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UniProtKB/Swiss-Prot Q5JTZ9: Variant p.Gly965Arg

Alanine--tRNA ligase, mitochondrial
Gene: AARS2
Variant information

Variant position:  965
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  -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:  In LKENP.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  965
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  985
The length of the canonical sequence.

Location on the sequence:   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: 
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:  
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


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.