PMID: 30645169

Variation in Serum PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9), Cardiovascular Disease Risk, and an Investigation of Potential Unanticipated Effects of PCSK9 Inhibition.

Circulation. Genomic and precision medicine
BM Brumpton, LG Fritsche, J Zheng, JB Nielsen, M Mannila, I Surakka, H Rasheed, GÅ Vie, SE Graham, ME Gabrielsen, LE Laugsand, P Aukrust, LJ Vatten, JK Damås, T Ueland, I Janszky, JA Zwart, FM Van't Hooft, NG Seidah, K Hveem, C Willer, GD Smith, BO Åsvold,
2019-01

12 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
1-55519174-G-A PCSK9 c.799+710G>A - IntronicSNV - 5/11
20-17457654-G-A PCSK2 c.1431-4575G>A - IntronicSNV - 11/11
5-74641707-G-A HMGCR c.450+224G>A - IntronicSNV - 5/19
1-55513061-T-C PCSK9 c.523+742T>C - IntronicSNV - 3/11
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
5-74648496-G-T HMGCR c.1368+1069G>T - IntronicSNV - 11/19
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
5-74656175-G-A HMGCR c.*8G>A - 3-UTRSNV 20/20 -
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
1-55519174-G-C PCSK9 c.799+710G>C - IntronicSNV - 5/11