Fig. 2
Analysis of the GRID2 variant and 3D modeling of GluD2. (a) Sequence chromatogram of genomic DNA showing part of the GRID2 gene obtained from the healthy sibling IV:5 (top), the heterozygous mother (middle) and a homozygous affected individual IV:2 (bottom). Arrows indicate the position of the c.2128C > T transition. (b) Degree of conservation of the Arg710 residue (shaded, bottom) across different species. (c) Relative position of the p.(Arg710Trp) substitution in the second extracellular serine-binding domain of the GRID2 protein. NH2: N-terminus; COOH: C-terminus. (d) Overview of the 3D structure of GluD2 protein with D-serine circled in red (left box). Enlargement of the D-serine binding domain of GluD2 with juxtaposition of the w.t. (p. Arg710) and the mutated (p.Trp710) residues at position 710 (middle box). The p.Arg710Trp substitution predicts a slight conformational change in the α-helix of the ligand binding domain (right box). The position of D-serine is circled in red