Table 3

BMPR2 mutations and unclassified variants (UV) identified in sporadic IPAH patients

NoPatient IDExonMutation typeNucleotide 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.
1K4518A2Nonsensec.91 G→TE31X
2K5429A7Nonsensec.961 C→TR321X
3K3771A8Donor spliceIVS8 +1 G→TND
4MHH1010Donor spliceIVS10 +3 A→TG426fs(+27)
5K4690A10Frameshiftc.1313-1316 del CAGAT438fs(+35)
6MHH0910Nonsensec.1348 C→TQ450X
7MHH5210Frameshiftc.1388-1389 insAE464fs(+6)
8K5943A10Nonsensec.1397 G→AW466X
9K6361A11Missensec.1471 C→T7R491W
10K5590A11Nonsensec.1483 C→TQ495X
11MHH1812Nonsensec.1750 C→T8R584X
12MHH079UV (missense)c.1157 A→GE386G