PMID: 31949048

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

The Journal of biological chemistry
SK Sarkar, ACY Foo, A Matyas, I Asikhia, T Kosenko, NK Goto, A Vergara-Jaque, TA Lagace
2020-01-16

13 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55505623-A-T PCSK9 c.113A>T p.Tyr38Phe Missense 1/12 -
1-55505622-TA-CG PCSK9 c.112_113delTAinsCG p.Tyr38Arg Missense 1/12 -
1-55505622-TA-CT PCSK9 c.112_113delTAinsCT p.Tyr38Leu Missense 1/12 -
1-55505632-T-C PCSK9 c.122T>C p.Leu41Pro Missense 1/12 -
1-55505622-TAC-GAG PCSK9 c.112_114delTACinsGAG p.Tyr38Glu Missense 1/12 -
1-55525200-T-G PCSK9 c.1545T>G p.Phe515Leu Missense 10/12 -
1-55505622-TA-GC PCSK9 c.112_113delTAinsGC p.Tyr38Ala Missense 1/12 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -
19-11216264-G-A LDLR c.682G>A p.Glu228Lys Missense 4/18 -
1-55505622-TAC-AAG PCSK9 c.112_114delTACinsAAG p.Tyr38Lys Missense 1/12 -
1-55505640-G-C PCSK9 c.130G>C p.Ala44Pro Missense 1/12 -