PMID: 26802169

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

Journal of lipid research
R Wintjens, D Bozon, K Belabbas, F MBou, JP Girardet, P Tounian, M Jolly, F Boccara, A Cohen, A Karsenty, B Dubern, JC Carel, A Azar-Kolakez, F Feillet, F Labarthe, AM Gorsky, A Horovitz, C Tamarindi, P Kieffer, A Lienhardt, O Lascols, M Di Filippo, F Dufernez
2016-03

38 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11227559-G-A LDLR c.1730G>A p.Trp577* Nonsense 12/18 -
19-45412053-CTCC-C APOE c.500_502delTCC p.Leu167delLeu InFrameDeletion 4/4 -
19-11222247-GG-G LDLR c.1118delG p.Gly373Valfs*40 Frameshift 8/18 -
19-11231164-G-A LDLR c.2106G>A p.Met702Ile Missense 14/18 -
19-11233920-G-T LDLR c.2211G>T p.Arg737Ser Missense 15/18 -
19-11230842-C-T LDLR c.1920C>T p.Asn640Asn Synonymous 13/18 -
19-11227525-G-A LDLR c.1706-10G>A - IntronicSNV - 11/17
19-11211009-C-T LDLR c.178C>T p.Gln60* Nonsense 2/18 -
19-11240281-T-A LDLR c.2482T>A p.Tyr828Asn Missense 17/18 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
19-11233876-G-T LDLR c.2167G>T p.Glu723* Nonsense 15/18 -
19-45411110-T-C APOE c.137T>C p.Leu46Pro Missense 3/4 -
19-11221411-G-A LDLR c.1024G>A p.Asp342Asn Missense 7/18 -
1-55525202-G-T PCSK9 c.1547G>T p.Gly516Val Missense 10/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
19-11230899-C-A LDLR c.1977C>A p.Thr659Thr Synonymous 13/18 -
19-11224290-G-A LDLR c.1438G>A p.Ala480Thr Missense 10/18 -
19-11221361-G-T LDLR c.974G>T p.Cys325Phe Missense 7/18 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
19-45411987-G-A APOE c.434G>A p.Gly145Asp Missense 4/4 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
19-11223968-C-T LDLR c.1201C>T p.Leu401Phe Missense 9/18 -
19-11233886-C-T LDLR c.2177C>T p.Thr726Ile Missense 15/18 -
2-21229446-G-C APOB c.10294C>G p.Gln3432Glu Missense 26/29 -
19-11218155-G-T LDLR c.905G>T p.Cys302Phe Missense 6/18 -
19-11222296-G-A LDLR c.1167G>A p.Thr389Thr Synonymous 8/18 -
19-11216263-ACGA-A LDLR c.681_683delCGA p.Asp227delAsp InFrameDeletion 4/18 -
19-11234020-G-A LDLR c.2311G>A p.Ala771Thr Missense 15/18 -
19-11213467-G-T LDLR c.313+5G>T - IntronicSNV - 3/17
19-11234004-TGACAATGT-T LDLR c.2295_2302delGACAATGT p.Thr766Serfs*13 Frameshift 15/18 -
1-55505632-T-A PCSK9 c.122T>A p.Leu41Gln Missense 1/12 -
19-11221324-G-A LDLR c.941-4G>A - IntronicSNV - 6/17
19-45412040-C-T APOE c.487C>T p.Arg163Cys Missense 4/4 -
2-21250758-T-C APOB c.2009A>G p.Glu670Gly Missense 14/29 -
19-11218079-G-A LDLR c.829G>A p.Glu277Lys Missense 6/18 -
2-21229068-G-A APOB c.10672C>T p.Arg3558Cys Missense 26/29 -
19-11216268-A-T LDLR c.686A>T p.Glu229Val Missense 4/18 -