Variant position: 251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 564 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 LWKA--------AKPQEVFWASPWGPGR PGWHIECSAIASMVFGSQLDI
Mouse LWKA--------AKPQEVFWASPWGDGR PGWHIECSTMASE
Bovine LWKA--------AKPQEPFWGSPWGDGR PGWHIECSTIASL
Xenopus laevis LWKT--------SKPEEPYWASPWGKGR PGWHIECSTIASS
Xenopus tropicalis LWKT--------SKPEEPYWASPWGKGR PGWHIECSTIASS
Slime mold LWKAYNENIDIDGTGNPVCWDSPFGKGR PGWHIECSAMIDS
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
257 – 257 Zinc
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Coughlin C.R. II; Scharer G.H.; Friederich M.W.; Yu H.C.; Geiger E.A.; Creadon-Swindell G.; Collins A.E.; Vanlander A.V.; Coster R.V.; Powell C.A.; Swanson M.A.; Minczuk M.; Van Hove J.L.; Shaikh T.H.;
J. Med. Genet. 52:532-540(2015)
Cited for: INVOLVEMENT IN COXPD27; VARIANTS COXPD27 GLU-217 DEL AND LEU-251;
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