Variant position: 615 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1484 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 PGGPSFTIGKAIWLLWGLVF NNSVPVQNPKGTTSKIMVSVW
Mouse PGGPSFTIGKAIWLLWGLVF NNSVPVQNPKGTTSKIMVSVW
Rat PGGPSFTIGKAIWLLWGLVF NNSVPVQNPKGTTSKIMVSVW
Xenopus laevis PGGPSFTIGKAIWLLWGLVF NNSVPVQNPKGTTSKIMVSVW
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
27 – 1484 Glutamate receptor ionotropic, NMDA 2B
604 – 623 Discontinuously helical
604 – 623 Pore-forming
615 – 615 Functional determinant of NMDA receptors
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Lemke J.R.; Hendrickx R.; Geider K.; Laube B.; Schwake M.; Harvey R.J.; James V.M.; Pepler A.; Steiner I.; Hortnagel K.; Neidhardt J.; Ruf S.; Wolff M.; Bartholdi D.; Caraballo R.; Platzer K.; Suls A.; De Jonghe P.; Biskup S.; Weckhuysen S.;
Ann. Neurol. 75:147-154(2014)
Cited for: INVOLVEMENT IN DEE27; VARIANTS DEE27 HIS-540; ILE-615 AND GLY-618; CHARACTERIZATION OF VARIANTS DEE27 HIS-540; ILE-615 AND GLY-618;
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.