PMID: 25349778

Is there a link between proprotein convertase PC7 activity and human lipid homeostasis?

FEBS open bio
J Guillemot, R Essalmani, J Hamelin, NG Seidah
2014

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55517984-A-G PCSK9 c.557A>G p.Asp186Gly Missense 4/12 -
11-117075566-C-T TAGLN c.*491C>T - IntergenicSNV 5/5 -
11-117089205-C-T PCSK7 c.1511G>A p.Arg504His Missense 12/17 -
11-117091609-G-C PCSK7 c.1156-1135C>G - IntronicSNV - 9/16
11-66636391-CCT-TGT PC c.946_948delAGGinsTGT p.Arg316Cys Missense 10/23 -
11-117091609-G-A PCSK7 c.1156-1135C>T - IntronicSNV - 9/16