Table 3

ALK-1Mutations Underlying PAH

LocationDomainPAH ClassificationNucleotide ChangeAmino Acid ChangeAge at OnsetReference
Exon 2ECDIPAHc.430C>Tp.R144XNKThis analysis
Exon 5ECDIPAHc.536A>Cp.D179A51 yrsHarrison et al. (27)
Exon 7KDHPAHc.936C>Gp.H312Q14 yrsFujiwara et al. (38)
Exon 8KDIPAHc.1142T>Cp.L381P9 yrsFujiwara et al. (38)
Exon 9KDHPAHc.1270C>Ap.P424T7 yrsFujiwara et al. (38)
Exon 10KDIPAHc.1436G>Ap.R479Q7 yrsFujiwara et al. (38)
KDIPAHc.1436G>Cp.R479PNKThis analysis
KDIPAHc.1451G>Ap.R484Q18 monthsHarrison et al. (27)
KDHPAHc.1451G>Ap.R484Q2 yrsFujiwara et al. (38)

Numbering is based on +1 of the initiation methionine of ALK1.

IPAH = idiopathic pulmonary arterial hypertension; other abbreviations as in Tables 1 and 2.