PMID: 27896130

Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Molecular genetics and metabolism reports

Wierød, Lene L, Cameron, Jamie J, Strøm, Thea Bismo TB, Leren, Trond P TP

2016-12

11 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55505679-G-A	PCSK9	c.169G>A	p.E57K	Missense	1/12	-
1-55505604-G-A	PCSK9	c.94G>A	p.E32K	Missense	1/12	-
1-55509688-GT-AG	PCSK9	c.380_381delGTinsAG	p.S127K	Missense	2/12	-
1-55518079-AGA-CAT	PCSK9	c.652_654delAGAinsCAT	p.R218H	Missense	4/12	-
1-55509689-T-A	PCSK9	c.381T>A	p.S127R	Missense	2/12	-
1-55518071-G-A	PCSK9	c.644G>A	p.R215H	Missense	4/12	-
1-55518081-A-C	PCSK9	c.654A>C	p.R218S	Missense	4/12	-
1-55518081-A-T	PCSK9	c.654A>T	p.R218S	Missense	4/12	-
1-55523163-T-G	PCSK9	c.1156T>G	p.S386A	Missense	7/12	-
1-55509631-T-G	PCSK9	c.323T>G	p.L108R	Missense	2/12	-
1-55524180-CT-TA	PCSK9	c.1363_1364delCTinsTA	p.L455*	Nonsense	9/12	-