Variant position: 667 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1336 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 VENPRGTTSKIMVLVWAFFA VIFLASYTANLAAFMIQEEYV
Mouse VENPRGTTSKIMVLVWAFFA VIFLASYTANLAAFMIQEEYV
Rat VENPRGTTSKIMVLVWAFFA VIFLASYTANLAAFMIQEEYV
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
28 – 1336 Glutamate receptor ionotropic, NMDA 2D
658 – 673 Helical
GRIN2D recurrent de novo dominant mutation causes a severe epileptic encephalopathy treatable with NMDA receptor channel blockers.
Li D.; Yuan H.; Ortiz-Gonzalez X.R.; Marsh E.D.; Tian L.; McCormick E.M.; Kosobucki G.J.; Chen W.; Schulien A.J.; Chiavacci R.; Tankovic A.; Naase C.; Brueckner F.; von Stuelpnagel-Steinbeis C.; Hu C.; Kusumoto H.; Hedrich U.B.; Elsen G.; Hoertnagel K.; Aizenman E.; Lemke J.R.; Hakonarson H.; Traynelis S.F.; Falk M.J.;
Am. J. Hum. Genet. 99:802-816(2016)
Cited for: FUNCTION; INVOLVEMENT IN EIEE46; VARIANT EIEE46 ILE-667; CHARACTERIZATION OF VARIANT EIEE46 ILE-667;
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.