Variant position: 800 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 ILLTNF-LCTLPAGHQIG-TVS PLFQKLENDQIESLRQRFGGG
Mouse ILATSF-ICTLPAGHRIG-TVS PLFQKLENDQIENLRQRFG
Bovine ILPTNF-LCTLPAGHQIG-TVS PLFQKLENDQIESLKQRFS
Xenopus laevis VLTTDF-CCCLQSGHQIG-NVS PLFQKLENDQIESLRKRFG
Caenorhabditis elegans -LFTPFPICYLKAGHKIG-QPS PLFQKLDPAQIAEFKAKFG
Slime mold -YSTHFDINAIPAGHEISKEIL PLVKKIEADDLKKWRTKFS
Baker's yeast -IDDRFHLAILE-GHNIN-KAE YLFQRIDEKKIDEWRAKYG
Fission yeast -IPDTWELCLLP-GHRIG-EPE YLFTRIDESMEEEWRSKYG
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.
Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.
Hyun Y.S.; Park H.J.; Heo S.H.; Yoon B.R.; Nam S.H.; Kim S.B.; Park C.I.; Choi B.O.; Chung K.W.;
Clin. Genet. 86:592-594(2014)
Cited for: INVOLVEMENT IN CMT2U; VARIANT CMT2U THR-800;
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.