Fig. 4: Experimental validation of Eps8 missense mutations predicted by PSMutPred to impact PS.
From: Decoding Missense Variants by Incorporating Phase Separation via Machine Learning
a Representative images of overexpressed GFP-Eps8 and its mutants in HEK293 cells (scale bars: 10 μm; n = 10 randomly picked cells). WT denotes wild type. b Quantification of puncta within the wild type and mutants of Eps8 in HEK293 cells (n = 10 randomly picked cells; ****P < 0.0001 by two-tailed Student’s t test, p = 8.1e-9 and 4.0e-10, respectively). Error bars represent SD, and center lines represent mean values. c Ribbon diagram representation of mouse EPS8 structure predicted by AlphaFold2, showing both front (left) and back (right) views. d–f Detailed regions involving missense mutations with their neighboring residues (d, f), and interaction analysis (e). The mutations are shown with the stick mode in red while hydrogen bonds are shown as blue dashed lines. Sequence alignments within critical residues are shown in bold. Source data are provided as a Source Data file.
