Fig. 1: Localization of CDC42 variants identified in patients.

A Organization of CDC42 domains and indication of the positions of the pathogenic variants under study. B Three-dimensional structure of CDC42 showing the CDC42 mutations of amino acids Y64, R186 and C188, and the insertion of the 24 amino acids at the C terminus highlighted in orange, red, blue, and dark red, respectively. The switch regions are indicated by black arrows and green colour, and the polybasic region is represented in yellow. C Subcellular localization of GFP-CDC42 variants in THP-1 cells co-stained for the Golgi and nucleus. Scale bars: 10 µm. D Quantification of the degree of Golgi—CDC42 co-localization for different variants using the Pearson’s Coefficient. One dot represents the mean value from about 15 cells from one independent experiment. Results are shown as means +/- SEM of four biological replicates (n = 4) and the significance levels were calculated using ordinary one-way ANOVA (***P = 0.0003; ****P < 0.0001). Source data are provided as a Source Data file.