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

2019-10

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	-