Table 2.
Mutations in BMPR2 in Finnish iPAH and hPAH patients
| Patient | 1 | 2 | 3 | 4 | 5 | 6 |
|---|---|---|---|---|---|---|
| Sex | F | F | M | M | F | F |
| Age of diagnosis | 31 | 52 | 35 | 49 | 19 | 47 |
| Family history | No | No | Yes | No | No | No |
| Exon number | 8 | 10 | 11 | 12 | 10 | 12 |
| Nucleotide change | c.994C>T | c.1376_1377delGA | c.1472G>A | c.2696G>C | c.1376_1377delGA | c.1750C>T |
| Amino acid change | p.Arg332X | p.Arg459ThrfsX11 | p.Arg491Gln | p.Arg899Pro | p.Arg459ThrfsX11 | p.Arg584X |
| Mutation type | Stop | Frameshift | Missense | Missense | Frameshift | Stop |
| Protein domain | Kinase domain | Kinase domain | Kinase domain | C-terminal cytoplasmic domain | Kinase domain | C-terminal cytoplasmic domain |
| Detected previously by Sanger Sequencing | Yes | No | Yes | Yes | Yes | No |
| Mutation in other genes | None | ACVRL1* | None | None | None | None |
Likely benign (c.536A>C, p.Asp179Ala). Mutation nomenclature is based on GenBank accession NM_001204.6 with nucleotide on being the first nucleotide of the translation initiation codon.
*
Refers to * Likely benign (c.536A<C, p.Asp179Ala).