Variant position: 140 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 452 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 EARVEEFKLKKMWKSPNGTI RNILGGTVFREPIICKNIPRL
Mouse EARVEEFKLKKMWKSPNGTI RNILGGTVFREPIICKNIPRL
Rat EARVEEFKLKKMWKSPNGTI RNILGGTVFREPIICKNIPRL
Bovine EARVEEFKLKKMWKSPNGTI RNILGGTVFREPIICKNIPRL
Slime mold EARVKEFGLKEMWKSPNGTI RNILDGTVFRGPIICKNLPLL
Baker's yeast EARVKEFNLHKMWKSPNGTI RNILGGTVFREPIVIPRIPRL
Fission yeast EARVKEYNLKKMWKSPNGTI RNILNGTVFREPILIKNIPKY
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.
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
Kranendijk M.; Struys E.A.; van Schaftingen E.; Gibson K.M.; Kanhai W.A.; van der Knaap M.S.; Amiel J.; Buist N.R.; Das A.M.; de Klerk J.B.; Feigenbaum A.S.; Grange D.K.; Hofstede F.C.; Holme E.; Kirk E.P.; Korman S.H.; Morava E.; Morris A.; Smeitink J.; Sukhai R.N.; Vallance H.; Jakobs C.; Salomons G.S.;
Cited for: VARIANTS D2HGA2 GLN-140 AND GLY-140;
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