Figure 2
Pathogenic variants associated with RAC1-related neurodevelopmental disorder. (a) Family pedigree (left) and electropherograms showing the pathogenic variant in the family (right). Squares, a circle, and triangles indicate male, female, and miscarriages, respectively. Black arrow indicates the proband. Red arrow indicates the pathogenic variant. Ref, Mut, and + indicate reference, mutant, and normal alleles, respectively. (b) Schematic presentation of RAC1, with the coding exons shown as boxes and the introns as black lines. Dotted lines indicate the location of variants with their details shown below. Evolutionary conservation of amino acids subject to pathogenic missense variant from D. rerio to H. sapiens is shown. Red text indicates the proband’s variant. Green text indicates the location of the RAC1-PAK1 connecting regions (amino acids 20, 21, 23–25, 27, 31, 33, 34, 36–47, 56, 58, 63, 64, 66, 67, and 70)16. Bold characters indicate the location of previously reported RAC1 pathogenic variants. White, yellow, and bright orange boxes indicate exon 3, Switch I region (amino acids 25–39), and Switch II region (amino acids 57–75), respectively.
