Table 4. PAH mutations identified in non-canonical BMP pathways.

Gene name	Location	Mutation category	Nucleotide change	Amino acid change	Frequency in this study	Clinical classification	Reference(s)
CAV1	Exon 3	Frameshift	c.473delC	p.P158Hfs*23	1	I	Austin et al., 2012
CAV1	Exon 3	Frameshift	c.474delA	p.L159Sfs*22	1	H	Austin et al., 2012
KCNA5	Exon 1	Missense	c.544G>A	p.G182R	2	I	Remillard et al., 2007
KCNA5	Exon 1	Missense	c.633G>C	p.E211D	2	I	Remillard et al., 2007
KCNA5	Exon 1	Frameshift	c.1448delA	p.Y483Sfs*4	1	H	Wang et al, 2014ˆ
KCNK3	Exon 1	Missense	c.23C>A	p.T8K	1	I	Ma et al., 2013
KCNK3	Exon 2	Missense	c.289G>A	p.G97R	1	H	Ma et al., 2013
KCNK3	Exon 2	Missense	c.544G>A	p.E182K	1	I	Ma et al., 2013
KCNK3	Exon 2	Missense	c.575A>G	p.Y192C	1	I	Ma et al., 2013
KCNK3	Exon 2	Missense	c.608G>A	p.G203D	1	H	Ma et al., 2013
KCNK3	Exon 2	Missense	c.661G>C	p.V221L	1	H	Ma et al., 2013

^†GenBank reference sequence and version number for CAV1: NM_001753.4; KCNA5: NM_002234.3; KCNK3: NM_002246.2

^‡Total number of independent cases

^ˆReported as a compound heterozygote with a BMPR2 c.1471C>T (p.R491W) mutation

Key to abbreviations: H: heritable pulmonary arterial hypertension; I: idiopathic pulmonary arterial hypertension