Sequence information
Variant position: 557 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:
GLTILVKKEIPRSTLDSFMQ
P FQSTLWLLVGLSVHVVAVML
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 GLTILVKKEIPRSTLDSFMQP FQSTLWLLVGLSVHVVAVML
GLTILVKKEIPRSTLDSFMQP FQSTLWLLVGLSVHVVAVML
Mouse GLTILVKKEIPRSTLDSFMQP FQSTLWLLVGLSVHVVAVML
Rat GLTILVKKEIPRSTLDSFMQP FQSTLWLLVGLSVHVVAVML
Xenopus laevis GLTILVKKEIPRSTLDSFMQP FQSTLWLLVGLSVHVVAVML
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
Beta strand
554 – 558
Literature citations
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C.; Gerard B.; Lauer J.; Herenger Y.; Muller J.; Quartier A.; Masurel-Paulet A.; Willems M.; Lesca G.; El-Chehadeh S.; Le Gras S.; Vicaire S.; Philipps M.; Dumas M.; Geoffroy V.; Feger C.; Haumesser N.; Alembik Y.; Barth M.; Bonneau D.; Colin E.; Dollfus H.; Doray B.; Delrue M.A.; Drouin-Garraud V.; Flori E.; Fradin M.; Francannet C.; Goldenberg A.; Lumbroso S.; Mathieu-Dramard M.; Martin-Coignard D.; Lacombe D.; Morin G.; Polge A.; Sukno S.; Thauvin-Robinet C.; Thevenon J.; Doco-Fenzy M.; Genevieve D.; Sarda P.; Edery P.; Isidor B.; Jost B.; Olivier-Faivre L.; Mandel J.L.; Piton A.;
J. Med. Genet. 51:724-736(2014)
Cited for: VARIANT NDHMSD ARG-557;
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;
Molecular mechanism of disease-associated mutations in the pre-M1 helix of NMDA receptors and potential rescue pharmacology.
Ogden K.K.; Chen W.; Swanger S.A.; McDaniel M.J.; Fan L.Z.; Hu C.; Tankovic A.; Kusumoto H.; Kosobucki G.J.; Schulien A.J.; Su Z.; Pecha J.; Bhattacharya S.; Petrovski S.; Cohen A.E.; Aizenman E.; Traynelis S.F.; Yuan H.;
PLoS Genet. 13:E1006536-E1006536(2017)
Cited for: CHARACTERIZATION OF VARIANT NDHMSD GLU-552 AND ARG-557;
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.