Fig. 4.
Impact of novel splicing events on the CACNA1C protein model. a CACNA1C encodes the primary pore-forming subunit of the CaV1.2. CaV1.2 is formed of four domains (I–IV), each comprised of six transmembrane domains (S1–S6), which are linked by intracellular loops. The obligate beta subunit binds to the I-II intracellular loop, as shown. Grey boxes indicate the location of novel, in-frame insertions and deletions, discussed in the main text. Values indicate the mean proportion of reads containing each variant. Where variants were identified using both analysis approaches, exon-level counts were used to derive abundance (red text); variants identified only using the splice-site-level approach are indicated with blue text. b Number of protein isoforms containing three microdeletions: (i) in the I-II linker, (ii) in the IV4–5 linker and (iii) the previously reported microdeletion in the IV3–4 linker