Figure 2.
Transmembrane structure of CaV1.3. CACNA1D encodes the pore-forming α1 subunit of a voltage-gated calcium channel. These channels feature four homologous repeats (I–IV) with 6 transmembrane segments (S1-S6) and a membrane-associated loop between segments S5 and S6. The five APA and two germline CACNA1D mutations identified in this study are located at the end of S6 segments implicated in channel gating.