Fig. 2: Results of the MD simulations, pooled for each variant. | European Journal of Human Genetics

Fig. 2: Results of the MD simulations, pooled for each variant.

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

Fig. 2

The distribution of root mean square deviation (RMSD) in Ångstrom units (Å) are computed for (A) all transmembrane helices, (B) helix 2 alone, (C) helices 1, 3, and 4, and (D) for the linker segment between helices 2 and 3 (coupling region). The individual variants are color-coded as defined in the color legend: wild type (WT): red; P266L: green; T300I: salmon; T300N: light blue. Average spatial occupancy of water at the level of the activation gate which is formed by a hydrophobic leucine ring α4: L297, β3: L284; δ: L288 computed for (E) WT, (F) P266L, (G) T300I, and (H) T300N. One β3 TMD is hidden to facilitate a front view of the gate. TMD and side chains are shown in cartoon and stick representation, respectively. Color coding is according to Fig. 1A, C.

Back to article page