Variant position: 567 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 DLYQFMAKDNVPFHSLVFPC SALGAEDNYTLVSHLIATEYL
Mouse DLYQFMAKDNVPFHGLVFPC SVLGAEDNYTLVKHIIATEYL
Bovine NLYQFMAKDNVPFHGIVFPS SALGAEDNYTLVSHLIATEYL
Xenopus laevis QLYNFMAKDNVPFHSVVFPS CLLGAEDNYTLVNHLVATEYL
Caenorhabditis elegans ELFNFVGKDNVAFHAVMFPC SQLGANDNYTVVNNLCATEYL
Slime mold KLVQFMGKDNVPFHTVIFPA SLIGSKDNYTLLNNLSTTEFL
Baker's yeast SLYQFMGKDNVPFHTVVFPG SQLGTEENWTMLHHLNTTEYL
Fission yeast KLYQFMGKDNVPFHTVIFPS SLLGTGEKWTMLHHINTTDYL
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
547 – 900 Missing. In isoform 2.
563 – 571
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.