PMID: 31553664

Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor).

Arteriosclerosis, thrombosis, and vascular biology
Ben Djoudi Ouadda, Ali A, Gauthier, Marie-Soleil MS, Susan-Resiga, Delia D, Girard, Emmanuelle E, Essalmani, Rachid R, Black, Miles M, Marcinkiewicz, Jadwiga J, Forget, Diane D, Hamelin, Josée J, Evagelidis, Alexandra A, Ly, Kevin K, Day, Robert R, Galarneau, Luc L, Corbin, Francois F, Coulombe, Benoit B, Çaku, Artuela A, Tagliabracci, Vincent S VS, Seidah, Nabil G NG

18 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55529182-C-A PCSK9 c.2004C>A p.S668R Missense 12/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
7-297040-A-C FAM20C c.1433A>C p.D478A Missense 8/10 -
1-55509631-T-G PCSK9 c.323T>G p.L108R Missense 2/12 -
1-55529187-G-A PCSK9 c.2009G>A p.G670E Missense 12/12 -
1-55529174-AGC-GAG PCSK9 c.1996_1998delAGCinsGAG p.S666E Missense 12/12 -
1-55529174-AG-GC PCSK9 c.1996_1997delAGinsGC p.S666A Missense 12/12 -
1-55505649-TC-GA PCSK9 c.139_140delTCinsGA p.S47D Missense 1/12 -
1-55529240-T-G PCSK9 c.2062T>G p.S688A Missense 12/12 -
1-55505649-T-G PCSK9 c.139T>G p.S47A Missense 1/12 -
1-55529182-C-G PCSK9 c.2004C>G p.S668R Missense 12/12 -
1-55529180-A-C PCSK9 c.2002A>C p.S668R Missense 12/12 -
1-55523729-T-G PCSK9 c.1201T>G p.S401A Missense 8/12 -
1-55529180-AGC-GAG PCSK9 c.2002_2004delAGCinsGAG p.S668E Missense 12/12 -
19-11230868-C-T LDLR c.1946C>T p.P649L Missense 13/18 -
1-55529240-TC-GA PCSK9 c.2062_2063delTCinsGA p.S688D Missense 12/12 -
1-55523729-TCT-GAG PCSK9 c.1201_1203delTCTinsGAG p.S401E Missense 8/12 -
1-55529180-AG-GC PCSK9 c.2002_2003delAGinsGC p.S668A Missense 12/12 -