Variant position: 50 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 LSSEPPAAKASAVRAAFLNF FRDRHGHRLVPSASVRP-RGDP
Mouse FSTEPGPPHGAAVRDAFLSF FRDRHGHRLVPSATVRP-RGD
Rat FSTEPHPPHGAAVRDAFLSF FRDRHGHRLVPSASVRP-RGD
Caenorhabditis elegans -----FYHSHSELRKSFYEF FKSKN-HEILRSSSVIPDEND
Drosophila --------TAREIRKTFLDH FTVNHGHKFVRSSPVVP-FCD
Slime mold LINRQYGTSTKEVRETFLNY F-EKNGHKRLPSGSLLP-YND
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;
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.