Rare substitutions in the APOB gene region encoding theLDL receptor-inding site are associated with hypercholesterolemia.One of the variants in this region, NP_000375.3:p.Arg3527Gln, leads to hypercholesterolemia with reducedclearance of LDL-C owing to a defect in the structural motifof LDL that is responsible for affinity for LDL receptor (Pullingeret al., 1995). The gene discussed is LDLR; the disease is Hypercholesterolemia.