LDLR and familial hypercholesterolemia: Interestingly, the loss of function mutation R46L was shown to be sufficient to significantly compensate the hypercholesterolemia induced by LDLR mutations 313 + 1G > C/313 + 2T > C (2.95 versus 6.11 ± 1.76 mmol/L, P = 0.013) [94].