To examine the functional effects of the ACVR1
c. 617G → A; R206H mutation that occurs in classic FOP patients, we compared the activity of
wild -
type (
c. 617G; R206) and mutant (
c. 617A; R206H) ACVR1 expression constructs on expression of the BMP pathway transcriptional target gene inhibitors of differentiation 1 (ID1)(29, 30).