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. Author manuscript; available in PMC: 2013 Jul 29.
Published in final edited form as: J Am Coll Cardiol. 2009 Jun 30;54(1 0):S32–S42. doi: 10.1016/j.jacc.2009.04.015

Table 2B.

ALK-1 mutations underlying PAH

Location Domain PAH
classification		 Nucleotide
change		 Amino acid
change		 Age at
onset		 Reference
Exon 2 ECD IPAH c.430C>T p.R144X NK This analysis
Exon 5 ECD IPAH c.536A>C p.D179A 51 years Harrison et al (27)
Exon 7 KD HPAH c.936C>G p.H312Q 14 years Fujiwara et al (38)
Exon 8 KD IPAH c.1142T>C p.L381P 9 years Fujiwara et al(38)
Exon 9 KD HPAH c.1270C>A p.P424T 7 years Fujiwara et al(38)
Exon 10 KD IPAH c.1436G>A p.R479Q 7 years Fujiwara et al (38)
Exon 10 KD IPAH c.1436G>C p.R479P NK This analysis
Exon 10 KD IPAH c.1451G>A p.R484Q 18 months Harrison et al (27)
Exon 10 KD HPAH c.1451G>A p.R484Q 2 years Fujiwara et al (38)

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

ECD = extracellular domain; KD = kinase domain.