PMID: 29724976

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

Anatolian journal of cardiology
Z Eroğlu, A Tetik Vardarlı, Z Düzgün, C Gündüz, V Bozok Çetintaş, M Kayıkçıoğlu
2018-05

10 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509687-AG-TT PCSK9 c.379_380delAGinsTT p.Ser127Phe Missense 2/12 -
1-55518073-TT-CG PCSK9 c.646_647delTTinsCG p.Phe216Arg Missense 4/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55518081-A-C PCSK9 c.654A>C p.Arg218Ser Missense 4/12 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
19-11216264-G-A LDLR c.682G>A p.Glu228Lys Missense 4/18 -
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 -
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 -