Protein Structure from Scientific Research

The GAT-1 binding site inset from (C) (red square) and relevant amino acids is shown with GABA bound. The WT and variant 3D structures of four variants are shown, and the variant insets are boxed in colors relevant to their clustering from (A) (magenta or purple). Two variants form part of the binding site for GABA (p.Gly63Ser and p.Ser295Leu), one variant is part of TM6 (p.Gly307Arg), and the variant in TM11 is the top recurrent variant (p.Val511Met,n= 6) with available surface localization data. Abbreviations: GoF, gain-of-function; LoF, loss-of-function; TM1, TM domain 1; TM3, TM domain 3; TM6, TM domain 6; TM8, TM domain 8; TM11, TM domain 11.

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