Fig. 2
From: Exome sequencing reveals a de novo PRKG1 mutation in a sporadic patient with aortic dissection
Sanger sequencing and mutation location. a The DNA sequencing chromatograms represent the patient and his parents. The corresponding encoded amino acid is shown above the chromatograms and the arrow denotes the mutated nucleotide. b A graphic illustration of the functional domain structure of PKG-1α and the glycine-rich GXGGXXGXV motif where the mutation p.Gly370Ser is located, as indicated by triangle. At the N-terminus, the dimerization domain is depicted. AI = the auto-inhibition domain; cGMP high (called A) = high-affinity binding domain for cGMP; cGMP low (called B) = low-affinity binding domain for cGMP