Table 1.

BMPR2 mutations in 12 Italian families with HPAH.

Fam	Exon	Nucleotide change	Amino acid change	Study	SIFT	PPH2	MA	SNP&go	MutPred	Condel
1	1	−155 insTCGGTCCT 21 delGCCCTGGC 29 G/A	p.P8fsX27	Machado et al.1
2	3	352 T > A	p.C118S	This study	0.01	1	2.92	0.82	0.888	0.747
3	6	631 C > T	p.R211X	Thomson et al.2
4	7	935 T > G	p.L312R	This study	0	0.99	4.27	0.83	0.952	0.99
5	8–9	Del exons 8–9	p.?	Aldred et al.3
6	Intr9	1276 + 4 A > G	Ex 9 skipped	Machado et al.1
7	9	1181 T > C	p.L394S	This study	0.01	1	1.72	0.80	0.511	1
8	9	1246 insG	p.I416fs	Machado et al.1
9	Intr10	1414-2 A > G	p.?	This study
10–11	12	2695 C > T	p.R899X	Lane et al.4
12	12	2789 C > G	p.S930X	Morisaki et al.5

Fam, family. Functional damaging effect was predicted according to the following scores: SIFT <0.05; PPH2, Polyphen2 >0.5; MA, Mutation Assessor >0.65; SNP&go >0.5; MutPred g_score >0.5, actionable hypothesis; g_score >0.75, confident hypothesis; Condel >0.52. Studies previously describing the considered variant were reported in Supplementary Information.