Update and analysis of the ucl pro-protein convertase subtilisin / kexin type9 gene (pcsk9) variant database.

      Objectives: Disease-causing PCSK9 gene variants were first identified in 2003 in patients with autosomal dominant hypercholesterolemia. Since then gain of function (GOF), loss of function (LOF) and functionally neutral (NEU) PCSK9 variants have been identified in subjects with high, low and normal LDL-C levels respectively. Our aim was to update the UCL PCSK9 variant database with inclusion of all variants reported in the literature and publically available databases. In an attempt to elucidate the molecular basis for the differential affects of PCSK9 variants we performed standard in silico analyses and conservation and structural analyses.
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