ACVR1 G328E

这种突变发生在acvr1的激酶域内，并已被证明是激活了下游BMP信号，在过度表达这种变异的细胞中细胞增殖增加。
This mutation occurs within the kinase domain of ACVR1 and has been shown to be activating of downstream BMP signaling with increased cell proliferation in cells overexpressing this variant.