Sequence information
Variant position: 815 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:
YQECDSRSNAPATLTFENMA
G VFMLVAGGIVAGIFLIFIEI
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 YQECDSRSNAPATLTFENMAG VFMLVAGGIVAGIFLIFIEI
YQECDSRSNAPATLTFENMAG VFMLVAGGIVAGIFLIFIEI
Mouse YQECDSRSNAPATLTFENMAG VFMLVAGGIVAGIFLIFIEI
Rat YQECDSRSNAPATLTFENMAG VFMLVAGGIVAGIFLIFIEI
Xenopus laevis YQECDSRSNAPATLTFENMAG VFMLVAGGIVAGIFLIFIEI
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
Transmembrane
813 – 833
Helical
Mutagenesis
813 – 813
M -> V. Slight decrease in glycine agonist potency; no effect on glutamate agonist potency.
Helix
811 – 837
Literature citations
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.;
Epilepsia 56:841-848(2015)
Cited for: VARIANTS NDHMSD GLU-552; ILE-641; LYS-650 AND ARG-815;
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke J.R.; Geider K.; Helbig K.L.; Heyne H.O.; Schuetz H.; Hentschel J.; Courage C.; Depienne C.; Nava C.; Heron D.; Moeller R.S.; Hjalgrim H.; Lal D.; Neubauer B.A.; Nuernberg P.; Thiele H.; Kurlemann G.; Arnold G.L.; Bhambhani V.; Bartholdi D.; Pedurupillay C.R.; Misceo D.; Frengen E.; Stroemme P.; Dlugos D.J.; Doherty E.S.; Bijlsma E.K.; Ruivenkamp C.A.; Hoffer M.J.; Goldstein A.; Rajan D.S.; Narayanan V.; Ramsey K.; Belnap N.; Schrauwen I.; Richholt R.; Koeleman B.P.; Sa J.; Mendonca C.; de Kovel C.G.; Weckhuysen S.; Hardies K.; De Jonghe P.; De Meirleir L.; Milh M.; Badens C.; Lebrun M.; Busa T.; Francannet C.; Piton A.; Riesch E.; Biskup S.; Vogt H.; Dorn T.; Helbig I.; Michaud J.L.; Laube B.; Syrbe S.;
Neurology 86:2171-2178(2016)
Cited for: VARIANTS NDHMSD GLU-552; ARG-557; ARG-618; ARG-620; SER-645; SER-647; ARG-815; VAL-815; LEU-817; ARG-827 AND CYS-844; VARIANTS NDHMSR TRP-217 AND 556-GLN--SER-938 DEL; CHARACTERIZATION OF VARIANTS NDHMSD ARG-557; ARG-618; ARG-620; SER-645; SER-647; ARG-815; LEU-817; ARG-827 AND CYS-844; CHARACTERIZATION OF VARIANTS NDHMSR TRP-217 AND 556-GLN--SER-938 DEL;
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.