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
1-55518073-TT-CG PCSK9 c.646_647delTTinsCG p.F216R Missense 4/12 -
1-55509687-AG-TT PCSK9 c.379_380delAGinsTT p.S127F Missense 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
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 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -