Sequence information
Variant position: 702 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:
LAHVTLELQHYHQLLEKVRI
R DALRSILTISRHGNQYIQVN
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 LAHVTLELQHYHQLLEKVRIR DALRSILTISRHGNQYIQVN
Mouse VAHVSWELQHYHQLLEKVRIR DALRSILTISRHGNQYIQVN
Bovine LTHITLELQHYHQLLEKVRIR DALRSILTISRHGNQYIQVN
Xenopus laevis LAQVAAELQQYNLLLEKVRIR DALRCILNISRHGNQYIQVN
Caenorhabditis elegans LSEIHNECMQWDKQFDGVHLK DAVKTILNVSRLGNQYMQAQ
Slime mold VQEVDEHLVQYFQKLEEISLK EGLKIAMSISKLGNTYMQDN
Baker's yeast VKDINEILSNYVKEMELGHER RGLEIAMSLSARGNQFLQEN
Fission yeast VKDVNALLAKYNAALEASKLR EGLRLAMEISARGNQYLQDN
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
Alternative sequence
547 – 900
Missing. In isoform 2.
Helix
701 – 722
Literature citations
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G.; Fenstermaker A.G.; Zaki M.S.; Hofree M.; Silhavy J.L.; Heiberg A.D.; Abdellateef M.; Rosti B.; Scott E.; Mansour L.; Masri A.; Kayserili H.; Al-Aama J.Y.; Abdel-Salam G.M.; Karminejad A.; Kara M.; Kara B.; Bozorgmehri B.; Ben-Omran T.; Mojahedi F.; Mahmoud I.G.; Bouslam N.; Bouhouche A.; Benomar A.; Hanein S.; Raymond L.; Forlani S.; Mascaro M.; Selim L.; Shehata N.; Al-Allawi N.; Bindu P.S.; Azam M.; Gunel M.; Caglayan A.; Bilguvar K.; Tolun A.; Issa M.Y.; Schroth J.; Spencer E.G.; Rosti R.O.; Akizu N.; Vaux K.K.; Johansen A.; Koh A.A.; Megahed H.; Durr A.; Brice A.; Stevanin G.; Gabriel S.B.; Ideker T.; Gleeson J.G.;
Science 343:506-511(2014)
Cited for: VARIANTS MET-5 AND TRP-702;
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.