Variant position: 716 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1464 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 NNYPYMHQYMTKFNQKGVED ALVSLKTGKLDAFIYDAAVLN
Chimpanzee NNYPYMHQYMTKFNQKGVED ALVSLKTGKLDAFIYDAAVLN
Mouse NNYPYMHQYMTKFNQRGVED ALVSLKTGKLDAFIYDAAVLN
Rat NNYPYMHQYMTRFNQRGVED ALVSLKTGKLDAFIYDAAVLN
Xenopus laevis NNYPDMHQYMVKFHQKGVQD ALVSLKTGKLDAFIYDAAVLN
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
23 – 1464 Glutamate receptor ionotropic, NMDA 2A
646 – 816 Extracellular
713 – 721
Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.
Parrini E.; Marini C.; Mei D.; Galuppi A.; Cellini E.; Pucatti D.; Chiti L.; Rutigliano D.; Bianchini C.; Virdo S.; De Vita D.; Bigoni S.; Barba C.; Mari F.; Montomoli M.; Pisano T.; Rosati A.; Guerrini R.;
Hum. Mutat. 38:216-225(2017)
Cited for: VARIANTS ASP-380; SER-989 AND GLY-1276; VARIANT FESD ASP-716;
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