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. 2016 Oct 4;13:225–236. doi: 10.1016/j.ebiom.2016.10.002

Fig. 1.

Fig. 1

CACNA1H variations identified in patients with PA. A–D. Pedigrees, Sanger sequencing chromatograms, alignment, and conservation of residues encoded by CACNA1H orthologs. A. c.4647G>C (p.Met1549Ile); B. c.587C>T (p.Ser196Leu); C. c.6248C>T (p.Pro2083Leu); D. c.5852T>A (p.Val1951Glu). Subjects with PA are shown with black symbols, subjects with arterial hypertension with grey symbols and non-affected subjects are shown with white symbols. E. Transmembrane structure of Cav3.2 representing the four homologous domains I–IV each with six transmembrane spans (Segments (S) 1–6), and cytoplasmic N- and C-termini. The pore of T-type channels is formed by the tetrameric arrangement of the four domains and is lined by the S6 segment in the intracellular part, while the S4 segment serves as the voltage sensor. The Met1549Ile mutation is located in S6 of repeat III and p.Ser196Leu in S4 of repeat I; p.Pro2083Leu and p.Val1951Glu are located in the C-terminal cytoplasmic domain.