PMID: 20937814

Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal of biological chemistry
S Benjannet, YG Saavedra, J Hamelin, MC Asselin, R Essalmani, A Pasquato, P Lemaire, G Duke, B Miao, F Duclos, R Parker, G Mayer, NG Seidah

12 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55518076-CA-GC PCSK9 c.649_650delCAinsGC p.His217Ala Missense 4/12 -
1-55505679-G-A PCSK9 c.169G>A p.Glu57Lys Missense 1/12 -
1-55518407-CG-GC PCSK9 c.742_743delCGinsGC p.Arg248Ala Missense 5/12 -
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 -
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
1-55518416-CG-GC PCSK9 c.751_752delCGinsGC p.Arg251Ala Missense 5/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55518341-CA-GC PCSK9 c.676_677delCAinsGC p.His226Ala Missense 5/12 -
1-55518374-C-T PCSK9 c.709C>T p.Arg237Trp Missense 5/12 -
1-55518375-GG-AT PCSK9 c.710_711delGGinsAT p.Arg237His Missense 5/12 -
1-55518077-A-G PCSK9 c.650A>G p.His217Arg Missense 4/12 -