MPL and congenital amegakaryocytic thrombocytopenia 1: Interestingly, the R102P c‐MPL mutation is known to lead to a loss of function of the c‐MPL receptor, due to blocked processing in the endoplasmic reticulum and lack of c‐MPL surface expression, causing congenital amegakaryocytic thrombocytopenia (CAMT).