PMID: 28971102

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

Global cardiology science & practice
NG Seidah
2017-03-31

12 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55509649-T-C PCSK9 c.341T>C p.Val114Ala Missense 2/12 -
1-55518341-CA-GC PCSK9 c.676_677delCAinsGC p.His226Ala Missense 5/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-11221402-CTG-GAC LDLR c.1015_1017delCTGinsGAC p.Leu339Asp Missense 7/18 -
1-55509618-C-T PCSK9 c.310C>T p.Arg104Cys Missense 2/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55518081-A-C PCSK9 c.654A>C p.Arg218Ser Missense 4/12 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -