Fig. 3. Illustration of RAB3GAP1 protein (wild type and mutated) and Sanger sequencing validation of the RAB3GAP1 mutation. A: Wild-type and mutated RAB3GAP1 protein. B: Sanger sequencing validation of the RAB3GAP1 mutation. (a) Wild-type electropherogram. (b) Electropherogram of the two affected brothers. (c) Electropherogram of the parents and the unaffected son.