PMID: 28971102

The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global cardiology science & practice
Seidah, Nabil G NG
2017-03-31

11 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509618-C-T PCSK9 c.310C>T p.R104C Missense 2/12 -
19-11221402-CTG-GAC LDLR c.1015_1017delCTGinsGAC p.L339D Missense 7/18 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55518081-A-C PCSK9 c.654A>C p.R218S Missense 4/12 -
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
1-55509649-T-C PCSK9 c.341T>C p.V114A Missense 2/12 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -
1-55518341-CA-GC PCSK9 c.676_677delCAinsGC p.H226A Missense 5/12 -