Sequence information
Variant position: 248 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 645 The length of the canonical sequence.
Location on the sequence:
VPSREPGKFYSLPQSPQQFK
Q LLMVGGLDRYFQVARCYRDE
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 VPSR-EPGK----FYSLPQSPQQFKQ LLMVGGLDRYFQVARCYRDE
Mouse VPSR-EPGK----FYSLPQSPQQFKQ LLMVGGLDRYFQVAR
Rat VPSR-EPGR----FYSLPQSPQQFKQ LLMVGGLDRYFQVAR
Bovine IPSR-EPGK----FYSLPQSPQQFKQ LLMVGGLDRYFQVAR
Slime mold VPTR-HQGQ----FYSLPQSPQQYKQ LLMVGGIDRYFQLAR
Baker's yeast VPTRTKRSDGKPSFYALDQSPQQYKQ LLMASGVNKYYQMAR
Fission yeast VPSRLNPGK----FYALPQSPQQYKQ ILMASGIGNYYQIAR
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
Chain
48 – 645
Aspartate--tRNA ligase, mitochondrial
Binding site
266 – 266
Modified residue
242 – 242
Phosphoserine
Literature citations
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Scheper G.C.; van der Klok T.; van Andel R.J.; van Berkel C.G.M.; Sissler M.; Smet J.; Muravina T.I.; Serkov S.V.; Uziel G.; Bugiani M.; Schiffmann R.; Kraegeloh-Mann I.; Smeitink J.A.M.; Florentz C.; Van Coster R.; Pronk J.C.; van der Knaap M.S.;
Nat. Genet. 39:534-539(2007)
Cited for: VARIANTS LBSL GLY-45; PHE-152; HIS-179; LYS-184; LYS-248; GLN-263; VAL-560; PHE-613; VAL-626; GLN-626 AND CYS-629;
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.