Variant position: 82 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1176 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 GHTFSLSKCEFAVGYQRLKG KCCLFPFGLHCTGMPIKACAD
Mouse GHTFSLSKCEFAVGYQRLKG KSCLFPFGLHCTGMPIKACAD
Caenorhabditis elegans GHTFSASKCEFAAGFQRLQG KEVLFPFGFHCTGMPIKACAD
Slime mold GHVFTITKAEFMCQFQRLMG KRVLFPFAFHCTGMPIKACAD
Baker's yeast GHCFTLSKVEFSIGFERMNG KRALFPLGFHCTGMPILACAD
Fission yeast GHAFTLSKVEFTTAFERLNG KRVLFPMGFHCTGMPICASAD
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
1 – 1176 Leucine--tRNA ligase, cytoplasmic
1 – 691 Missing. In isoform 3.
Identification of a mutation in LARS as a novel cause of infantile hepatopathy.
Casey J.P.; McGettigan P.; Lynam-Lennon N.; McDermott M.; Regan R.; Conroy J.; Bourke B.; O'Sullivan J.; Crushell E.; Lynch S.; Ennis S.;
Mol. Genet. Metab. 106:351-358(2012)
Cited for: VARIANT ILFS1 CYS-373; VARIANT ARG-82;
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