Table 1—

BMPR2 mutations in patients with pulmonary veno-occlusive disease

Mutation locationNucleotide changeAmino acid changeReference
Exon 1c.44delCp.PI5fsX31Runo et al. 35
Exon 2c.77-?_247+?delp.A26_Q82delAldred et al. 36
Exon 2c.120T>Gp.Y40XMachado et al. 37
Exon 8c.1120delAp.I374fsX
Exon 5c.604A>Tp.Asn202TyrMontani et al. 4
Exon 5c.583G>Tp.Glu195X
  • The mutation nomenclature follows current guidelines as recommended by the Human Genome Variation Society 38.