Variant position: 605 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 900 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 EYLNYEDGKFSKSRGVGVFG DMAQDTGIPADIWRFYLLYIR
Mouse EYLNYEDGKFSKSRGIGVFG DMAKDTGIPADIWRFYLLYIR
Bovine EYLNYEDGKFSKSRGVGVFG DMAQDTGIPADIWRFYLLYNR
Xenopus laevis EYLNYEDGKFSKSRGVGVFG DMAKDTGIPADIWRFYLLYVR
Caenorhabditis elegans EYLNYEDTKFSKSRGTGIFG DAAQGTEIPADIWRFYLLYMR
Slime mold EFLNYETGKFSKSRNTGVFG DGAKATGIPSEVWRFYLLNNR
Baker's yeast EYLQYENGKFSKSRGVGVFG NNAQDSGISPSVWRYYLASVR
Fission yeast DYLNYETGKFSKSRGVGVFG NTAQDIGLSPSVWRYYLLSSR
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 – 900 Methionine--tRNA ligase, cytoplasmic
596 – 596 ATP
547 – 900 Missing. In isoform 2.
604 – 606
Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Reunion island.
Hadchouel A.; Wieland T.; Griese M.; Baruffini E.; Lorenz-Depiereux B.; Enaud L.; Graf E.; Dubus J.C.; Halioui-Louhaichi S.; Coulomb A.; Delacourt C.; Eckstein G.; Zarbock R.; Schwarzmayr T.; Cartault F.; Meitinger T.; Lodi T.; de Blic J.; Strom T.M.;
Am. J. Hum. Genet. 96:826-831(2015)
Cited for: VARIANTS ILLD CYS-344; THR-393; LEU-567 AND VAL-605; VARIANTS LEU-206 AND GLN-727;
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.