Structural map of pathogenic GABRA variants and experimental schemes (IMAGE)
Caption
(A) Left, 2D structural map of the GABAAR α1 subunit with affected residues highlighted by blue circular shades (sequence acquired from UniProt P14867). Right, modified 3D structures of pentameric GABAAR (PDB ID 6X3U) showing the amino acids constituting the GABA binding pocket and the transmembrane domains (TM1, red; TM2, orange; TM3, green; TM4, cyan) of the α1 subunit. (B) The distribution of 61 GABRA variants identified in patients across the subcellular domains of the GABAAR α1 subunit. Uncharacterized variants analyzed functionally in this study are highlighted in bold. (C) Experimental scheme of site-directed mutagenesis, transfection of wild-type (WT)/mutant (MT) GABAARs into HEK293 cells, and whole-cell patch-clamp recordings of GABA-evoked GABAAR-gated currents.
Credit
Wenlin Chen, Yee Wah So, Catherine Wang, Yanwen Shen, Michelle Demos, Jun Mu, Tian Rui Zhang, Xiaobin Wu, Linda Huh, Yu Tian Wang, Lidong Liu
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License
CC BY-NC-ND