Figure 2
Localization of the novel c.1142C>T (p.S381F) and c.337C>T (p.R113X) mutations within the RASGRP2 sequence and the encoded protein CalDAG-GEFI. DNA from index cases was analyzed by NGS or WES, and novel mutations in RASGRP2 were identified. (A) Localization of the novel c.1142C>T (p.S381F; family 1) and c.337C>T (p.R113X; family 2) mutations within the RASGRP2 sequence. (B) Schematic representation for CalDAG-GEFI showing the different domains: Ras exchange motif (REM), catalytic domain (Cdc25), calcium-binding EF hands (EF), and C1-like domain (unknown function). The positions of the recently reported G248W mutation5 and the novel p.R113X and p.S381F mutations within the REM and Cdc25 domains are shown. CDGI, CalDAG-GEFI.
