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. Author manuscript; available in PMC: 2014 Jun 1.
Published in final edited form as: Circ Cardiovasc Genet. 2013 Jun;6(3):279–289. doi: 10.1161/CIRCGENETICS.113.000138

Figure 4.

Figure 4

Topology Diagram of the CACNA1C Channel Alpha-Subunit. Each variant is represented as a black circle followed by the amino acid position and change. Asterisk represents the mutation identified by whole exome sequencing in the pedigree (Figure 1). Patient history is displayed for each variant. The PEST domain sequence is highlighted showing the position of the three variants residing within this domain as well as the species conservation. STIM1 binding region, 1806–1905 is shown in the C-terminal tail of CACNA1C. STIM1 interacts with the LTCC to normally suppress channel function 40, 41.