Variant position: 688 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:
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 NDPRLRNPSDKFIYATVKQS SVDIYFRRQVELSTMYRHMEK
Mouse NDPRLRNPSDKFIYATVKQS SVDIYFRRQVELSTMYRHMEK
Rat NDPRLRNPSDKFIYATVKQS SVDIYFRRQVELSTMYRHMEK
Xenopus laevis NDPRLRNPSDKFIYATVKQS SVDIYFRRQVELSTMYRHMEK
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
19 – 938 Glutamate receptor ionotropic, NMDA 1
648 – 812 Extracellular
688 – 688 Glycine
674 – 674 N-linked (GlcNAc...) asparagine
688 – 695
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.
Zehavi Y.; Mandel H.; Zehavi A.; Rashid M.A.; Straussberg R.; Jabur B.; Shaag A.; Elpeleg O.; Spiegel R.;
Eur. J. Med. Genet. 60:317-320(2017)
Cited for: VARIANTS NDHMSD TYR-688 AND ARG-827;
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.