Variant position: 227 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 LLMEAKELEARVIILSASED DAATVYRAAAMLNMTGSGYVW
Mouse LLMEARDLEARVIILSASED DAATVYRAAAMLNMTGSGYVW
Rat LLMEARELEARVIILSASED DAATVYRAAAMLNMTGSGYVW
Xenopus laevis LLLEAKELEARVIILSASED DATAVYKSAAMLDMTGAGYVW
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
19 – 559 Extracellular
239 – 239 N-linked (GlcNAc...) asparagine
79 – 308
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.
Rossi M.; Chatron N.; Labalme A.; Ville D.; Carneiro M.; Edery P.; des Portes V.; Lemke J.R.; Sanlaville D.; Lesca G.;
Eur. J. Hum. Genet. 25:376-380(2017)
Cited for: VARIANT NDHMSR HIS-227;
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.