Figure 4.

Predicted gene products of the mutated alleles, if translated, in orange, superimposed on the wild type Cav2.1 (in gray) spanning 2510 amino acid residues, with four homologous domains, each with six transmembrane segments. The intracellular C-terminus is largely missing in #444 (with truncation at residue 1917, arrow). The predicted gene product of the mutated allele in Pt #946 encodes only the first three transmembrane segments. The gene product in Pt#2021 of the mutated allele with the deletion of exon 39–40, if translated, is predicted to comprise 79 novel residues (in green) following residue 1917, missing the tail (gray).