PMID: 25349778

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

FEBS open bio

Guillemot, Johann J, Essalmani, Rachid R, Hamelin, Josée J, Seidah, Nabil G NG

2014

7 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55517984-A-G	PCSK9	c.557A>G	p.D186G	Missense	4/12	-
8-125568039-C-T	MTSS1	c.1511G>A	p.G504D	Missense	13/14	-
11-117075566-C-T	TAGLN	c.*491C>T	-	IntergenicSNV	5/5	-
11-117091609-G-A	PCSK7	c.1156-1135C>T	-	IntronicSNV	-	9/16
11-117091609-G-C	PCSK7	c.1156-1135C>G	-	IntronicSNV	-	9/16
11-117089205-C-T	PCSK7	c.1511G>A	p.R504H	Missense	12/17	-
11-66636391-CCT-ACA	PC	c.946_948delAGGinsTGT	p.R316C	Missense	10/23	-