Variant position: 650 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 938 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 RILGMVWAGFAMIIVASYTA NLAAFLVLDRPEERITGINDP
Mouse RILGMVWAGFAMIIVASYTA NLAAFLVLDRPEERITGINDP
Rat RILGMVWAGFAMIIVASYTA NLAAFLVLDRPEERITGINDP
Xenopus laevis RILGMVWAGFAMIIVASYTA NLAAFLVLDRPEERITGINDP
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
19 – 938 Glutamate receptor ionotropic, NMDA 1
648 – 812 Extracellular
627 – 656
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
Ohba C.; Shiina M.; Tohyama J.; Haginoya K.; Lerman-Sagie T.; Okamoto N.; Blumkin L.; Lev D.; Mukaida S.; Nozaki F.; Uematsu M.; Onuma A.; Kodera H.; Nakashima M.; Tsurusaki Y.; Miyake N.; Tanaka F.; Kato M.; Ogata K.; Saitsu H.; Matsumoto N.;
Cited for: VARIANTS NDHMSD GLU-552; ILE-641; LYS-650 AND ARG-815;
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