PMID: 26802169

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal of lipid research
Wintjens, René R, Bozon, Dominique D, Belabbas, Khaldia K, MBou, Félicien F, Girardet, Jean-Philippe JP, Tounian, Patrick P, Jolly, Mathilde M, Boccara, Franck F, Cohen, Ariel A, Karsenty, Alexandra A, Dubern, Béatrice B, Carel, Jean-Claude JC, Azar-Kolakez, Ahlam A, Feillet, François F, Labarthe, François F, Gorsky, Anne-Marie Colin AM, Horovitz, Alice A, Tamarindi, Catherine C, Kieffer, Pierre P, Lienhardt, Anne A, Lascols, Olivier O, Di Filippo, Mathilde M, Dufernez, Fabienne F
2016-03

36 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
19-11233886-C-T LDLR c.2177C>T p.T726I Missense 15/18 -
1-55529187-G-A PCSK9 c.2009G>A p.G670E Missense 12/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55509687-A-C PCSK9 c.379A>C p.S127R Missense 2/12 -
2-21250758-T-C APOB c.2009A>G p.E670G Missense 14/29 -
1-55505632-T-A PCSK9 c.122T>A p.L41Q Missense 1/12 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
19-45412040-C-T APOE c.487C>T p.R163C Missense 4/4 -
1-55523855-G-A PCSK9 c.1327G>A p.A443T Missense 8/12 -
2-21229068-G-A APOB c.10672C>T p.R3558C Missense 26/29 -
19-45412048-GCTC-G APOE c.500_502delTCC p.L167del InFrameDeletion 4/4 -
19-11213467-G-T LDLR c.313+5G>T - IntronicSNV - 3/17
19-45411987-G-A APOE c.434G>A p.G145D Missense 4/4 -
19-11227559-G-A LDLR c.1730G>A p.W577* Nonsense 12/18 -
19-11230842-C-T LDLR c.1920C>T p.N640= Synonymous 13/18 -
19-11218079-G-A LDLR c.829G>A p.E277K Missense 6/18 -
19-11218155-G-T LDLR c.905G>T p.C302F Missense 6/18 -
2-21229446-G-C APOB c.10294C>G p.Q3432E Missense 26/29 -
19-11211009-C-T LDLR c.178C>T p.Q60* Nonsense 2/18 -
19-11216268-A-T LDLR c.686A>T p.E229V Missense 4/18 -
19-11221361-G-T LDLR c.974G>T p.C325F Missense 7/18 -
19-11223968-C-T LDLR c.1201C>T p.L401F Missense 9/18 -
19-11224290-G-A LDLR c.1438G>A p.A480T Missense 10/18 -
19-11231164-G-A LDLR c.2106G>A p.M702I Missense 14/18 -
19-11233876-G-T LDLR c.2167G>T p.E723* Nonsense 15/18 -
19-11233920-G-T LDLR c.2211G>T p.R737S Missense 15/18 -
19-11234020-G-A LDLR c.2311G>A p.A771T Missense 15/18 -
19-11240281-T-A LDLR c.2482T>A p.Y828N Missense 17/18 -
1-55525202-G-T PCSK9 c.1547G>T p.G516V Missense 10/12 -
19-11222296-G-A LDLR c.1167G>A p.T389= Synonymous 8/18 -
19-11230899-C-A LDLR c.1977C>A p.T659= Synonymous 13/18 -
19-11216260-TGAC-T LDLR c.681_683delCGA p.D227del InFrameDeletion 4/18 -
19-11221411-G-A LDLR c.1024G>A p.D342N Missense 7/18 -
19-11222244-AG-A LDLR c.1118delG p.G373Vfs*40 Frameshift 8/18 -
19-11234001-AGTGACAAT-A LDLR c.2295_2302delGACAATGT p.T766Sfs*13 Frameshift 15/18 -