PMID: 28777095

PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

Anatolian journal of cardiology
E Kaya, M Kayıkçıoğlu, A Tetik Vardarlı, Z Eroğlu, S Payzın, L Can
2017-10

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -