FIGURE 2.

Location of the identified CACNA1A mutations in Cav2.1 and amino acid sequence alignment of the missense mutations. (A) Schematic illustration of the Cav2.1 protein and the location of the CACNA1A mutations identified in this study. (B) Schematic illustration of the Cav2.1 protein and the location of the epilepsy-related CACNA1A missense mutations. (C) Amino acid sequence alignment of the eight missense mutations with protein substitutions show that Arg68, Gly1322, Arg1678, Ser1798, Pro1993, and Glu2021 are highly conserved across species. Ser1078 and Ile1631 show a low degree of conservation.