PMID: 27998977

The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.

The Journal of biological chemistry
Susan-Resiga, Delia D, Girard, Emmanuelle E, Kiss, Robert Scott RS, Essalmani, Rachid R, Hamelin, Josée J, Asselin, Marie-Claude MC, Awan, Zuhier Z, Butkinaree, Chutikarn C, Fleury, Alexandre A, Soldera, Armand A, Dory, Yves L YL, Baass, Alexis A, Seidah, Nabil G NG
2017-02-03

18 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11216263-C-G LDLR c.681C>G p.D227E Missense 4/18 -
19-11226877-G-T LDLR c.1694G>T p.G565V Missense 11/18 -
19-11224013-C-T LDLR c.1246C>T p.R416W Missense 9/18 -
1-55509631-T-G PCSK9 c.323T>G p.L108R Missense 2/12 -
19-11221366-C-T LDLR c.979C>T p.H327Y Missense 7/18 -
19-11240330-G-A LDLR c.2531G>A p.G844D Missense 17/18 -
19-11227604-G-A LDLR c.1775G>A p.G592E Missense 12/18 -
19-11223997-G-C LDLR c.1230G>C p.R410S Missense 9/18 -
19-11240282-A-G LDLR c.2483A>G p.Y828C Missense 17/18 -
19-11223997-G-T LDLR c.1230G>T p.R410S Missense 9/18 -
19-11224213-C-A LDLR c.1361C>A p.T454N Missense 10/18 -
19-11223995-AG-GC LDLR c.1228_1229delAGinsGC p.R410A Missense 9/18 -
19-11227604-G-C LDLR c.1775G>C p.G592A Missense 12/18 -
19-11227603-G-A LDLR c.1774G>A p.G592R Missense 12/18 -
19-11227603-G-C LDLR c.1774G>C p.G592R Missense 12/18 -
19-11227604-GG-AC LDLR c.1775_1776delGGinsAC p.G592D Missense 12/18 -
19-11223996-G-A LDLR c.1229G>A p.R410K Missense 9/18 -
19-11223995-AG-GA LDLR c.1228_1229delAGinsGA p.R410E Missense 9/18 -