Fig. 2
From: Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy
The residue of the GABRA1 (R214C) mutation is highly conserved across species. a Diagrammatic representation of the GABAAR α1 subunit. Mutation of the R214 residue is located in the extracellular N-terminal domain of the α1 subunit. b A three-dimensional structural model of GABAARs with the mutant site R214 indicated in yellow, and the GABA binding site, indicated in grey. Molecular graphics and analyses performed with UCSF Chimera, developed by the Resource for Biocomputing, Visualization, and Informatics at the University of California, San Francisco, with support from NIH P41-GM103311 [36]. c The R214 residue (highlighted in red in sequence alignments) is highly conserved among different species and across the different GABRA1–3 genes