Figure 3. Mapping of Genetic Mutations Associated with Clinical Phenotypes onto 3D Models of Human Ca_v Channels.

(A and B) Mapping of a representative group of disease-causing mutation onto the 3D model of human Ca_v1.1 repeat I, as depicted with the ribbon and stick representation of the structure. The legend table shows a large number of mutations targeting both the voltage-sensing (A) and gating (B) mechanisms of the channels and that multiple mutations target the same structural location while leading to an array of phenotypically diverse diseases. The pseudo-numbering of the mutations only takes into account the mutated sites within the domains and begins at the first mutated amino acid. See also Figure S3 and Table S1.