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. 2000 Sep 1;106(5):R31–R38. doi: 10.1172/JCI10841

Figure 3.

Figure 3

Three frameshift mutations in PRKAR1α that cause Carney complex. A schematic representation of PRKAR1α cDNA shows exons 1–11. Regions that encode functional domains (dimerization domain, antigenic sites, hinge/pseudophosphorylation site, cAMP-binding domains A and B) of R1α are denoted (13). Location of the PRKAR1α deletion mutations ΔFSterGly208 in family YA, ΔFSterVal253 in family YB, and ΔFSterThr163 in family YF are shown. Mutations are denoted by ΔFSter to indicate a deletion with resultant frameshift and premature stop codon, and by the first amino acid residue affected by the deletion.