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
12Missense179G→A60Cys to TyrPaternal
23Missense350G→A117Cys to TyrPaternal
36Nonsense631C→T211Arg to Stop HaeIII
58Nonsense994C→T332Arg to StopPaternal TaqI
69Frameshift1248delA416PTC+7 De novo
79Frameshift1247/8ins GA416PTC+4
811Missense1447T→C483Cys to Arg
912Frameshift1969insA657PTC+18 MseI
1012Frameshift2386delG796PTC+7 De novo Fnu4HI
1112Frameshift2386delG796PTC+7 Fnu4HI
1212Frameshift2386delG796PTC+7 Fnu4HI
1312Nonsense2695C→T899Arg to Stop HaeIII
  • The downstream amino acid position of the premature termination codon (PTC) is indicated.