PMID: 31509211

A Genetic Approach to the Association Between PCSK9 and Sepsis.

JAMA network open
Q Feng, WQ Wei, S Chaugai, BG Carranza Leon, V Kawai, DA Carranza Leon, L Jiang, X Zhong, G Liu, A Ihegword, CM Shaffer, MF Linton, CP Chung, CM Stein
2019-09-04

8 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-55513061-T-C PCSK9 c.523+742T>C - IntronicSNV - 3/11
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -