Fig. 1: Structural basis for the MD simulations of α4 variants. | European Journal of Human Genetics

Fig. 1: Structural basis for the MD simulations of α4 variants.

From: De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy

Fig. 1

A Side view of GABRα4β3δ embedded in a complex lipid bilayer. The α4 subunit, as derived from GABRα4β3δ cryo-EM structure (PDB ID: 7QN9) [7], is colored in skyblue and highlights the ECD and TMD. The three β3 and one δ subunits, protruding through the membrane, are colored in three shades of green and mauve, respectively. The linker segment connecting TM2 and TM3 is highlighted in faded pink. Amino acids that vary in the four patients are depicted in sticks and colored in mauve. B Lipid composition in sticks used for the MD simulations. POPC:1-palmitoyl-2-oleoyl-sn-glycero-3-phosphocholine; POPE: 1-palmitoyl-2-oleoyl-sn-glycero-3-phosphoethanolamine; POPS: 1-palmitoyl-2-oleoyl-sn-glycero-3-phospho-L-serine, CHOL: cholest-5-en-3β-ol, colored in rose, yellow, green, and blue, respectively. C Overview of the TMD arrangement. While the ECD is transparent, the TMD is kept opaque. The α4 subunit is sandwiched between the δ and a β3 subunit. Subunits are colored as in (A).

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