Figure 3.

Schematic diagram of SMARCA2 protein and its domains and location of missense mutations associated with NCBRS. QLQ, glutamine‐leucine‐glutamine domain; Proline, proline‐rich domain; HSA, small helicase/SANT associated domain; BRK, brahma and kismet domain; SNF2_N and Helicase_C; Bromo, acetyl‐lysine binding bromodomain. Patient's mutation in black. Mutations reported first by [Van Houdt et al., 2012] in green, [Wolff et al., 2012] in orange, [Sousa and Hennekam, 2014] in blue, [Bramswig et al., 2015] in purple, and [Ejaz et al., 2016] in pink. *Recurrent mutations. **Patient without classical NCBRS but with overlap features of intellectual disability, absent speech and seizures. [Color figure can be viewed at wileyonlinelibrary.com].