Sequence information
Variant position: 650 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:
RILGMVWAGFAMIIVASYTA
N LAAFLVLDRPEERITGINDP
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 RILGMVWAGFAMIIVASYTAN LAAFLVLDRPEERITGINDP
RILGMVWAGFAMIIVASYTAN LAAFLVLDRPEERITGINDP
Mouse RILGMVWAGFAMIIVASYTAN LAAFLVLDRPEERITGINDP
Rat RILGMVWAGFAMIIVASYTAN LAAFLVLDRPEERITGINDP
Xenopus laevis RILGMVWAGFAMIIVASYTAN LAAFLVLDRPEERITGINDP
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
648 – 812
Extracellular
Helix
627 – 656
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;
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.