Fig. 3.

Location of mutations in ATP1A3 gene, mRNA and protein. Numbers 1–23 represent gene exons; bp: base pairs; nt: nucleotides; aa: amino acids. AHC2 mutations are presented as red dots, RDP mutations as blue dots and two rare polymorphisms identified in the general population as green dots. The p.Glu818Lys mutation found in CAPOS families is shown as a purple dot. Mutations shared between AHC2 and RDP phenotypes are presented as red dots with a blue dot inside. The green circles represent the five mutational clusters that are located at the loops formed by an extracellular domain, the two adjacent transmembrane domains, and the surrounding regions of the cytoplasmic domain