Figure 4.

Location of the pathogenic variants in ATP1A1 protein. (A) 2D structure: The circles represent the de novo variants, with purple filled representing the novel variants that we found and blue filled representing the previously reported variants. The yellow triangles represent inherited variants associated with CMT previously reported. (B) 3Dstructure: Location of all the pathogenic variants in ATP1A1 protein. All the de novo mutations were concentrated in the transmembrane region, whereas 88.9% (8/9) of inherited variants concentrated in the topological regions, and 11.1% (1/9) locate in the transmembrane regions.