Fig. 3

Molecular findings in EIF2B related disorders. a Schematic representation of the previously reported deleterious missense variants in the literature, and those identified in our cases (in red). b 3D Model of EIF2B5 protein. Left: Consurf score of residues (red: conserved; blue: not conserved). p.156 and p.389 are shown with Van der Waals representation. Right: Positions of the pathogenic variants (yellow)