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. 2020 Jul 13;143(8):2380–2387. doi: 10.1093/brain/awaa176

Figure 1.

Figure 1

SLC12A2 missense variants. (A) Chart summarizing frequency of clinical features in children with SLC12A2 de novo mutations and an NDD. (B) Schematic representation of NKCC1 with 12 transmembrane domains: five inverted transmembrane domains + five symmetry transmembrane domains (shaded), followed by TM11 and TM12 (white transmembrane domains). The position of patient mutations is indicated in red. (C) Three-dimensional structure of NKCC1 demonstrating location of missense variants at the core of the protein, with high potential to disrupt protein structure.