Variant position: 405 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:
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 DAYPELQRNSA-----QIANLVSED EAAFLASLERGRRIIDRTL---------------------------RT
Mouse SAYPELEKNSV-----KIASLVSED EAAFLASLQRGRRIID
Rat AAYPELQKNSVKVLIWEIANLVSED EAAFLASLQRGRRIID
Caenorhabditis elegans EVYPEIHDTST-----HIRKIFNDE EAQFWKTVDKAKKMFD
Drosophila EAYPEMAAKQQ-----AVIDLICHE QEVYKNLRESSSKAFA
Slime mold DIYPQLIERSN-----EIRNVILNE EGTFYNAIQRGIPYLE
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
24 – 985 Alanine--tRNA ligase, mitochondrial
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.;
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;
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