BMPR2 mutations and unclassified variants (UV) identified in sporadic IPAH patients
| No | Patient ID | Exon | Mutation type | Nucleotide change* | Amino acid change† |
|---|---|---|---|---|---|
| *Nucleotide numbers are according to published cDNA, with the A of the ATG designated as +1. | |||||
| †Frameshifts are denoted with the amino acid, position, and number of amino acids until new stop codon. | |||||
| 1 | K4518A | 2 | Nonsense | c.91 G→T | E31X |
| 2 | K5429A | 7 | Nonsense | c.961 C→T | R321X |
| 3 | K3771A | 8 | Donor splice | IVS8 +1 G→T | ND |
| 4 | MHH10 | 10 | Donor splice | IVS10 +3 A→T | G426fs(+27) |
| 5 | K4690A | 10 | Frameshift | c.1313-1316 del CAGA | T438fs(+35) |
| 6 | MHH09 | 10 | Nonsense | c.1348 C→T | Q450X |
| 7 | MHH52 | 10 | Frameshift | c.1388-1389 insA | E464fs(+6) |
| 8 | K5943A | 10 | Nonsense | c.1397 G→A | W466X |
| 9 | K6361A | 11 | Missense | c.1471 C→T7 | R491W |
| 10 | K5590A | 11 | Nonsense | c.1483 C→T | Q495X |
| 11 | MHH18 | 12 | Nonsense | c.1750 C→T8 | R584X |
| 12 | MHH07 | 9 | UV (missense) | c.1157 A→G | E386G |