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. Author manuscript; available in PMC: 2014 Mar 1.
Published in final edited form as: Nat Genet. 2013 Aug 4;45(9):1050–1054. doi: 10.1038/ng.2695

Figure 1.

Figure 1

CACNA1D mutations in aldosterone-producing adenomas and primary aldosteronism. (a) Sequences of tumor and blood genomic DNA, and (where available) tumor cDNA, of CACNA1D codons 402–404 in APA37, APA31, APA65 and APA59, and of codons 769–771 in APA29. Mutations are present in tumor only, and expressed in cDNA. Sequencing the products of cloned PCR products confirmed the presence of identified mutations in APAs 31, 65 and 59. (b) Pedigrees of kindreds with germline CACNA1D mutations. Affected individuals are shown as filled symbols. The corresponding Sanger sequences are depicted to the right. (c) Conservation of Gly403 and Ile770 in orthologs and paralogs. S6, S6 segment; ‘h’, high-voltage activated; ‘l’, low-voltage activated. Residues conserved among all homologs are marked in yellow, and positions conserved in ≥90% of all homologs in both repeats are marked in green. Residues associated with known gain of function mutations in human diseases14–17,22 are marked in purple.