1. p.Thr287Pro mutation in the β2 subunit and γ-aminobutyric acid-A (GABAA) receptor is shown.
p.Thr287Pro mutation in the β2 subunit and γ-aminobutyric acid-A (GABAA) receptor is shown. (A) Cartoon representation of the location of the p.Thr287Pro mutation of β2 subunit of the GABAA receptor. (B) Three-dimensional structural model of the GABAA receptor that is composed predominantly of two α1 (blue ribbons), two β2 (red ribbons) and one γ2 (grey ribbon) subunits in the mammalian central nervous system. β2 subunits have four transmembrane domains (TM1 to TM4). The GABRB2 de novo p.Thr287Pro mutation is mapped onto the β2 subunit in black at the second transmembrane domain (TM2). (C) Extracellular view of the transmembrane domain in a structural model of pentameric αβγ GABAA receptor (The N-terminal domain was removed for clarity) displaying the GABRB2 mutations (in black) on β (red ribbons) subunits. TM2 domains of five subunits form the Cl− ion pore (dashed black circle) and the p.Thr287Pro mutations are within the pore region.
Atsushi Ishii et al. J Med Genet 2017;54:
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