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.