Sequence information
Variant position: 620 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:
ALTLSSAMWFSWGVLLNSGI
G EGAPRSFSARILGMVWAGFA
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 ALTLSSAMWFSWGVLLNSGIG EGAPRSFSARILGMVWAGFA
ALTLSSAMWFSWGVLLNSGIG EGAPRSFSARILGMVWAGFA
Mouse ALTLSSAMWFSWGVLLNSGIG EGAPRSFSARILGMVWAGFA
Rat ALTLSSAMWFSWGVLLNSGIG EGAPRSFSARILGMVWAGFA
Xenopus laevis ALTLSSAMWFSWGVLLNSGIG EGAPRSFSARILGMVWAGFA
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
Intramembrane
603 – 624
Discontinuously helical
Region
603 – 624
Pore-forming
Literature citations
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;
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
Chen W.; Shieh C.; Swanger S.A.; Tankovic A.; Au M.; McGuire M.; Tagliati M.; Graham J.M.; Madan-Khetarpal S.; Traynelis S.F.; Yuan H.; Pierson T.M.;
J. Hum. Genet. 62:589-597(2017)
Cited for: VARIANT NDHMSD ARG-620; CHARACTERIZATION OF VARIANT NDHMSD ARG-620;
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.