PMID: 34341098

Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open heart
Lacaze, Paul P, Riaz, Moeen M, Sebra, Robert R, Hooper, Amanda J AJ, Pang, Jing J, Tiller, Jane J, Polekhina, Galina G, Tonkin, Andrew A, Reid, Chris C, Zoungas, Sophia S, Murray, Anne M AM, Nicholls, Stephen S, Watts, Gerald G, Schadt, Eric E, McNeil, John J JJ
2021-07

62 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
2-21252534-G-A APOB c.1594C>T p.R532W Missense 12/29 -
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 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
19-11210912-C-T LDLR c.81C>T p.C27= Synonymous 2/18 -
19-11210912-C-A LDLR c.81C>A p.C27* Nonsense 2/18 -
19-11210912-C-G LDLR c.81C>G p.C27W Missense 2/18 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55518374-C-T PCSK9 c.709C>T p.R237W Missense 5/12 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55518071-G-A PCSK9 c.644G>A p.R215H Missense 4/12 -
1-55509649-T-C PCSK9 c.341T>C p.V114A Missense 2/12 -
1-55523127-G-C PCSK9 c.1120G>C p.D374H Missense 7/12 -
1-55509624-G-A PCSK9 c.316G>A p.G106R Missense 2/12 -
1-55518371-G-A PCSK9 c.706G>A p.G236S Missense 5/12 -
1-55512267-C-A PCSK9 c.471C>A p.N157K Missense 3/12 -
1-55523828-C-T PCSK9 c.1300C>T p.R434W Missense 8/12 -
1-55525219-G-A PCSK9 c.1564G>A p.A522T Missense 10/12 -
1-55509585-C-T PCSK9 c.277C>T p.R93C Missense 2/12 -
1-55505613-G-T PCSK9 c.103G>T p.D35Y Missense 1/12 -
1-55523855-G-A PCSK9 c.1327G>A p.A443T Missense 8/12 -
1-55509631-T-G PCSK9 c.323T>G p.L108R Missense 2/12 -
1-55524201-T-C PCSK9 c.1384T>C p.S462P Missense 9/12 -
1-55523068-A-T PCSK9 c.1061A>T p.N354I Missense 7/12 -
1-55512252-G-C PCSK9 c.456G>C p.Q152H Missense 3/12 -
1-55509694-A-G PCSK9 c.386A>G p.D129G Missense 2/12 -
1-55509594-C-T PCSK9 c.286C>T p.R96C Missense 2/12 -
1-55509693-G-A PCSK9 c.385G>A p.D129N Missense 2/12 -
2-21245703-C-T APOB c.2816G>A p.G939D Missense 18/29 -
1-55509618-C-T PCSK9 c.310C>T p.R104C Missense 2/12 -
2-21224811-ACTG-A APOB c.13480_13482delCAG p.Q4494del InFrameDeletion 29/29 -
2-21230565-G-A APOB c.9175C>T p.R3059C Missense 26/29 -
2-21265322-G-A APOB c.148C>T p.R50W Missense 3/29 -
1-55509621-C-T PCSK9 c.313C>T p.R105W Missense 2/12 -
2-21228587-G-C APOB c.11153C>G p.S3718* Nonsense 26/29 -
2-21242680-C-T APOB c.2914G>A p.G972S Missense 19/29 -
1-55523802-A-G PCSK9 c.1274A>G p.N425S Missense 8/12 -
2-21252772-G-A APOB c.1468C>T p.R490W Missense 11/29 -
1-55529084-A-C PCSK9 c.1906A>C p.S636R Missense 12/12 -
1-55518422-C-T PCSK9 c.757C>T p.L253F Missense 5/12 -
1-55518085-G-T PCSK9 c.657+1G>T - IntronicSNV - 4/11
1-55523076-C-T PCSK9 c.1069C>T p.R357C Missense 7/12 -
2-21233487-G-A APOB c.6253C>T p.R2085* Nonsense 26/29 -
2-21233202-G-A APOB c.6538C>T p.Q2180* Nonsense 26/29 -
1-55512316-C-T PCSK9 c.520C>T p.P174S Missense 3/12 -
2-21256187-G-C APOB c.1108C>G p.L370V Missense 9/29 -
1-55509595-G-T PCSK9 c.287G>T p.R96L Missense 2/12 -
2-21229558-C-A APOB c.10182G>T p.K3394N Missense 26/29 -
2-21235237-A-C APOB c.4503T>G p.Y1501* Nonsense 26/29 -
1-55505579-G-GCTT PCSK9 c.69_70insCTT p.L23dup InFrameInsertion 1/12 -
2-21232440-G-A APOB c.7300C>T p.Q2434* Nonsense 26/29 -
2-21265298-C-G APOB c.172G>C p.A58P Missense 3/29 -
1-55509592-CCCG-C PCSK9 c.290_292delGCC p.R97del InFrameDeletion 2/12 -
1-55527230-G-A PCSK9 c.1863+1G>A - IntronicSNV - 11/11
1-55518321-A-G PCSK9 c.658-2A>G - IntronicSNV - 4/11
2-21256244-G-T APOB c.1051C>A p.L351M Missense 9/29 -
1-55518321-A-C PCSK9 c.658-2A>C - IntronicSNV - 4/11
2-21229221-G-A APOB c.10519C>T p.R3507W Missense 26/29 -
2-21257688-C-T APOB c.904G>A p.G302S Missense 8/29 -
2-21238259-C-G APOB c.3491G>C p.R1164T Missense 22/29 -
2-21255263-G-A APOB c.1315C>T p.R439* Nonsense 10/29 -