FigureĀ 4.
Summary of mutation functional assays and location on RAC2 structure. (A) Summary of each mutant tested across functional assays. Functional groups: A, activating; CA, constitutively active; and N, null. Values derived from functional studies were row normalized and colored. Red and blue correspond to increased or decreased activity, respectively, relative to WT RAC2; gray indicates variant not tested in specified assay. (B) Identified patient mutations shown on 3-dimensional structure of RAC1 amino acids 2-177 (3TH5)31 with switch regions (blue) and P-loop (orange) highlighted. Constitutively active and D57N mutations are noted in red; CID mutations in pink.