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
D Susan-Resiga, E Girard, RS Kiss, R Essalmani, J Hamelin, MC Asselin, Z Awan, C Butkinaree, A Fleury, A Soldera, YL Dory, A Baass, NG Seidah
2017-02-03

20 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11216263-C-G LDLR c.681C>G p.Asp227Glu Missense 4/18 -
19-11227604-GG-AC LDLR c.1775_1776delGGinsAC p.Gly592Asp Missense 12/18 -
19-11216263-C-A LDLR c.681C>A p.Asp227Glu Missense 4/18 -
19-11223996-G-A LDLR c.1229G>A p.Arg410Lys Missense 9/18 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-11240282-A-G LDLR c.2483A>G p.Tyr828Cys Missense 17/18 -
19-11227603-G-A LDLR c.1774G>A p.Gly592Arg Missense 12/18 -
19-11227603-G-C LDLR c.1774G>C p.Gly592Arg Missense 12/18 -
19-11223995-AG-GA LDLR c.1228_1229delAGinsGA p.Arg410Glu Missense 9/18 -
19-11223997-G-T LDLR c.1230G>T p.Arg410Ser Missense 9/18 -
19-11223997-G-C LDLR c.1230G>C p.Arg410Ser Missense 9/18 -
19-11221366-C-T LDLR c.979C>T p.His327Tyr Missense 7/18 -
19-11224013-C-T LDLR c.1246C>T p.Arg416Trp Missense 9/18 -
19-11223995-AG-GC LDLR c.1228_1229delAGinsGC p.Arg410Ala Missense 9/18 -
1-55509631-T-G PCSK9 c.323T>G p.Leu108Arg Missense 2/12 -
19-11227604-G-A LDLR c.1775G>A p.Gly592Glu Missense 12/18 -
19-11224213-C-A LDLR c.1361C>A p.Thr454Asn Missense 10/18 -
19-11240330-G-A LDLR c.2531G>A p.Gly844Asp Missense 17/18 -
19-11227604-G-C LDLR c.1775G>C p.Gly592Ala Missense 12/18 -
19-11226877-G-T LDLR c.1694G>T p.Gly565Val Missense 11/18 -