PMID: 29724976

Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian journal of cardiology

Eroğlu, Zuhal Z, Tetik Vardarlı, Aslı A, Düzgün, Zekeriya Z, Gündüz, Cumhur C, Bozok Çetintaş, Vildan V, Kayıkçıoğlu, Meral M

2018-05

10 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55518081-A-T	PCSK9	c.654A>T	p.R218S	Missense	4/12	-
1-55505604-G-A	PCSK9	c.94G>A	p.E32K	Missense	1/12	-
1-55509689-T-A	PCSK9	c.381T>A	p.S127R	Missense	2/12	-
1-55524303-C-T	PCSK9	c.1486C>T	p.R496W	Missense	9/12	-
1-55523127-G-T	PCSK9	c.1120G>T	p.D374Y	Missense	7/12	-
19-11216264-G-A	LDLR	c.682G>A	p.E228K	Missense	4/18	-
1-55518073-T-C	PCSK9	c.646T>C	p.F216L	Missense	4/12	-
1-55518081-A-C	PCSK9	c.654A>C	p.R218S	Missense	4/12	-
1-55518073-TT-CG	PCSK9	c.646_647delTTinsCG	p.F216R	Missense	4/12	-
1-55509687-AG-TT	PCSK9	c.379_380delAGinsTT	p.S127F	Missense	2/12	-