Sequence information
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:
GVVAQAVHELLEKENITDPP
R GCVGNTNIWKTGPLFKRVLM
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 GVVAQAVHELLEKENITDPPR GCVGNTNIWKTGPLFKRVLM
GVVAQAVHELLEKENITDPPR GCVGNTNIWKTGPLFKRVLM
Mouse GVVAQAVHELLEKENITDPPR GCVGNTNIWKTGPLFKRVLM
Rat GVVAQAVHELLEKENITDPPR GCVGNTNIWKTGPLFKRVLM
Xenopus laevis AVVAQAIHELFEMENITDPPR GCVGNTNIWKTGPLFKRVLM
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
19 – 938
Glutamate receptor ionotropic, NMDA 1
Topological domain
19 – 559
Extracellular
Glycosylation
300 – 300
N-linked (GlcNAc...) asparagine
Disulfide bond
79 – 308
Literature citations
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;
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.