Variant position: 214 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 477 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 LFQLEPSGKLKVPE------ENFFNV PAFLTVSGQLHLEVMSGAFTQ
Mouse LFQVEPSSKIKGPK------ESFFDV PAFLTVSGQLHLEVM
Slime mold QFQIKSSLDTKESM--------FFGQ PSFLTVSGQLEAEIY
Baker's yeast LFQVSTNTSPTASS--------YFGK PTYLTVSTQLHLEIL
Fission yeast VFTLTPQETHKNKSFERDDQKHFFDR PAFLTVSTQLHLEAL
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
15 – 477 Probable asparagine--tRNA ligase, mitochondrial
1 – 227 Missing. In isoform 2.
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
Sofou K.; Kollberg G.; Holmstroem M.; Davila M.; Darin N.; Gustafsson C.M.; Holme E.; Oldfors A.; Tulinius M.; Asin-Cayuela J.;
Mol. Genet. Genomic Med. 3:59-68(2015)
Cited for: INVOLVEMENT IN COXPD24; VARIANT COXPD24 LEU-214;
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