Variant position: 306 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 GVVAQAVHELLEKENITDPP RGCVGNTNIWKTGPLFKRVLM
Mouse GVVAQAVHELLEKENITDPP RGCVGNTNIWKTGPLFKRVLM
Rat GVVAQAVHELLEKENITDPP RGCVGNTNIWKTGPLFKRVLM
Xenopus laevis AVVAQAIHELFEMENITDPP RGCVGNTNIWKTGPLFKRVLM
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
19 – 559 Extracellular
300 – 300 N-linked (GlcNAc...) asparagine
79 – 308
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.
Tarabeux J.; Kebir O.; Gauthier J.; Hamdan F.F.; Xiong L.; Piton A.; Spiegelman D.; Henrion E.; Millet B.; Fathalli F.; Joober R.; Rapoport J.L.; DeLisi L.E.; Fombonne E.; Mottron L.; Forget-Dubois N.; Boivin M.; Michaud J.L.; Drapeau P.; Lafreniere R.G.; Rouleau G.A.; Krebs M.O.;
Transl. Psychiatry 1:E55-E55(2011)
Cited for: VARIANTS GLN-306; SER-349 AND ALA-419;
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