Fig. 2From: Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical featuresAnalysis 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 redBack to article page