PCSK9 has many sequence variations. Several missense mutations(e.g.S127R and F216L)in PCSK9 are associated with an autosomal dominant form of hypercholesterolemia(ADH).

• PCSK9基因有多种序列变异,如错义突变S127R和F216L可引起常染色体显性高胆固醇血症;