PMID: 31949048

A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

The Journal of biological chemistry
Sarkar, Samantha K SK, Foo, Alexander C Y ACY, Matyas, Angela A, Asikhia, Ikhuosho I, Kosenko, Tanja T, Goto, Natalie K NK, Vergara-Jaque, Ariela A, Lagace, Thomas A TA
2020-02-21

15 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55525200-T-G PCSK9 c.1545T>G p.F515L Missense 10/12 -
1-55505640-G-C PCSK9 c.130G>C p.A44P Missense 1/12 -
1-55505622-TAC-GAG PCSK9 c.112_114delTACinsGAG p.Y38E Missense 1/12 -
1-55505632-T-C PCSK9 c.122T>C p.L41P Missense 1/12 -
1-55505622-TA-CT PCSK9 c.112_113delTAinsCT p.Y38L Missense 1/12 -
1-55505623-A-T PCSK9 c.113A>T p.Y38F Missense 1/12 -
1-55505622-TA-CG PCSK9 c.112_113delTAinsCG p.Y38R Missense 1/12 -
1-55524303-C-T PCSK9 c.1486C>T p.R496W Missense 9/12 -
1-55505622-TA-GC PCSK9 c.112_113delTAinsGC p.Y38A Missense 1/12 -
1-55525198-T-C PCSK9 c.1543T>C p.F515L Missense 10/12 -
1-55525200-T-A PCSK9 c.1545T>A p.F515L Missense 10/12 -
1-55505622-TAC-AAG PCSK9 c.112_114delTACinsAAG p.Y38K Missense 1/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
19-11216264-G-A LDLR c.682G>A p.E228K Missense 4/18 -
1-55524222-C-T PCSK9 c.1405C>T p.R469W Missense 9/12 -