ALT Screenshot of Figure 1, sections A and B. A: A one-dimensional, schematic representation of the DISP1 transcript, with the locations of the patients’ variants. Missense, nonsense and frameshift variants are colored in blue, orange, and red, respectively. ECD1 (red) and ECD2 (pink) are the extracellular domains. The preTM1 and TM1 domains are shown in purple, the TM2 to TM6 domains in blue, the preTM7 and TM7 domains in yellow, and the TM8 to TM12 domains in green. Orange square under a variant indicates that is has been identified in an individual with lobar or microform; Red square indicates that it has been identified in an individual with alobar or semi-lobar HPE. B: A two-dimensional topological diagram of human DISP1, showing secondary structure elements.