PubMed ID | Description |
---|---|
19191301 | Nonsense mutations in PCSK9 appear to be polymorphic and confer susceptibility to low LDL cholesterol (hypocholesterolemia) whereas dominant missense mutations predispose to high LDL cholesterol. |
15654334 | African Americans carry two loss of function changes in PCSK9 with a combined frequency of 2%. These variants resulted in a 40% reduction in plasma levels of LDL cholesterol. |
Nonsense mutations in PCSK9 appear to be polymorphic and confer susceptibility to low LDL cholesterol (hypocholesterolemia) whereas dominant missense mutations predispose to high LDL cholesterol. There are also multiple reports of deletion CNVs at or near (and could be extending into depending on array resolution) PCSK9 in DGV. There are many PCSK9 frameshift and stop gain changes listed in ExAc (one at high frequency = 33 alleles = p.Tyr142Ter, rs67608943).
There is no evidence at present for triplosensitivity of PCSK9.