Fig. 3

Schematic of p120-RasGAP. Schematic of p120-RasGAP, the 1047-amino-acid protein encoded by the RASA-1 gene. With two Src homology 2 (SH2) domains and one Src homology 3 (SH3) domain in the N-terminal region, a Pleckstrin homology (PH) domain and a protein kinase conserved region 2 in the central region (C2), and a Ras GTPase-activating domain in the C-terminal region (RasGAP), p120-GAP negatively regulates the Ras/MAPK pathway. Our patient and his father harbored a mutation (c.3070A > T, p.Lys1024*), labeled with the solid arrow, halting the further translation of p120-RasGAP, which consequently led to CM-AVM