Figure 2.

NOTCH3 mutations in idiopathic pulmonary arterial hypertension patients. (A) Two mutations, c.2519 G>A p.G840E and c.2698 A>C p.T900P, were identified in two probands. (B) Schematic representation of the wild-type NOTCH3 protein and the locations of the two mutations. (C) Alignment of NOTCH3 proteins among human, rhesus monkey, mouse, dog, elephant, opossum, chicken, Xenupus tropicalis, and zebrafish, showing the conservation of glycine 840 and threonine 900 in these species. (D) Pedigrees of the patients' families. The current age or the age at diagnosis, as well as the age at diagnosis (Dx) is provided for each family member.