Table 2

Details of BMPR2 mutations identified in sporadic PPH patients

Patient No	Exon	Mutation type	Nucleotide change	Codon position	Amino acid change	Inheritance	Restriction enzyme
1	2	Missense	179G→A	60	Cys to Tyr	Paternal	—
2	3	Missense	350G→A	117	Cys to Tyr	Paternal	—
3	6	Nonsense	631C→T	211	Arg to Stop	—	HaeIII
4	6	Frameshift	787insT	263	PTC⁺³	—	—
5	8	Nonsense	994C→T	332	Arg to Stop	Paternal	TaqI
6	9	Frameshift	1248delA	416	PTC⁺⁷	De novo	—
7	9	Frameshift	1247/8ins GA	416	PTC⁺⁴	—	—
8	11	Missense	1447T→C	483	Cys to Arg	—	—
9	12	Frameshift	1969insA	657	PTC⁺¹⁸	—	MseI
10	12	Frameshift	2386delG	796	PTC⁺⁷	De novo	Fnu4HI
11	12	Frameshift	2386delG	796	PTC⁺⁷	—	Fnu4HI
12	12	Frameshift	2386delG	796	PTC⁺⁷	—	Fnu4HI
13	12	Nonsense	2695C→T	899	Arg to Stop	—	HaeIII

The downstream amino acid position of the premature termination codon (PTC) is indicated.