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
A Ben Djoudi Ouadda, MS Gauthier, D Susan-Resiga, E Girard, R Essalmani, M Black, J Marcinkiewicz, D Forget, J Hamelin, A Evagelidis, K Ly, R Day, L Galarneau, F Corbin, B Coulombe, A Çaku, VS Tagliabracci, NG Seidah

19 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505649-TC-GA PCSK9 c.139_140delTCinsGA p.Ser47Asp Missense 1/12 -
1-55529180-A-C PCSK9 c.2002A>C p.Ser668Arg Missense 12/12 -
1-55523729-TCT-GAG PCSK9 c.1201_1203delTCTinsGAG p.Ser401Glu Missense 8/12 -
1-55523729-T-G PCSK9 c.1201T>G p.Ser401Ala Missense 8/12 -
1-55529240-TC-GA PCSK9 c.2062_2063delTCinsGA p.Ser688Asp Missense 12/12 -
1-55529182-C-A PCSK9 c.2004C>A p.Ser668Arg Missense 12/12 -
1-55529182-C-G PCSK9 c.2004C>G p.Ser668Arg Missense 12/12 -
1-55509631-T-G PCSK9 c.323T>G p.Leu108Arg Missense 2/12 -
1-55529180-AGC-GAG PCSK9 c.2002_2004delAGCinsGAG p.Ser668Glu Missense 12/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55529174-AG-GC PCSK9 c.1996_1997delAGinsGC p.Ser666Ala Missense 12/12 -
1-55529180-AG-GC PCSK9 c.2002_2003delAGinsGC p.Ser668Ala Missense 12/12 -
1-55529240-T-G PCSK9 c.2062T>G p.Ser688Ala Missense 12/12 -
1-55505649-T-G PCSK9 c.139T>G p.Ser47Ala Missense 1/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-11230868-C-T LDLR c.1946C>T p.Pro649Leu Missense 13/18 -
7-297040-A-C FAM20C c.1433A>C p.Asp478Ala Missense 8/10 -
1-55529174-AGC-GAG PCSK9 c.1996_1998delAGCinsGAG p.Ser666Glu Missense 12/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -