Sequence information
Variant position: 370 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:
SFDIFGRTTTPQQTKITQDI
F QQLLKRGFVLQDTVEQLRCE
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 SFDIFGRTTTPQQTKITQDIF QQLLKRGFVLQDTVEQLRCE
Mouse SFDTFGRTTTPQQTKITQDIF QRLLTRGFVLRDTVEQLRCE
Bovine SFDFFGRTTTPQQTKITQDIF QRLLARGFVLQDTVEQLRCE
Xenopus laevis SFDYFGRTTTQHQTTISQDIF HRLLEREFLLTDTVEQLRCE
Caenorhabditis elegans DFSHFGRTTTDHQTEICQDMF LKLHKNGYTSSQSVDQLYCN
Slime mold SFDKFGRTSTNSQTEIAQDIF NKIKDNGYTLTQEIEQLYCE
Baker's yeast GFDYFGRTTTDKQTEIAQHIF TKLNSNGYLEEQSMKQLYCP
Fission yeast DFDHFGRTTTPKQTGIAQHIF TKLYNNDYMAIDTMTQLYCE
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
1 – 900
Methionine--tRNA ligase, cytoplasmic
Helix
360 – 374
Literature citations
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.
van Meel E.; Wegner D.J.; Cliften P.; Willing M.C.; White F.V.; Kornfeld S.; Cole F.S.;
BMC Med. Genet. 14:106-106(2013)
Cited for: INVOLVEMENT IN ILLD; VARIANTS ILLD LEU-370 AND THR-523;
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.