Table 2

ENGMutations Underlying PAH

LocationDomainPAH ClassificationNucleotide ChangeAmino Acid ChangeReference
Exon 5ECDPAH+HHTc.682-686delp.S228fsX102Harrison et al. (27)
Exon 10ECDPAH+HHTc.1334delTp.M445fsX44Harrison et al. (27)
Exon 11ECDPAH+HHT+dexfenfluraminec.del410Gp.Q470fsX20Chaouat et al. (15)
Intron 12ECDPAH+HHTc.1429-22T>CHarrison et al. (48)
Mache et al. (49)

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

HHT = hereditary hemorrhagic telangiectasia; other abbreviations as in Table 1.