PMID: 34948399

A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

International journal of molecular sciences
Uribe, Kepa B KB, Chemello, Kevin K, Larrea-Sebal, Asier A, Benito-Vicente, Asier A, Galicia-Garcia, Unai U, Bourane, Steeve S, Jaafar, Ali K AK, Lambert, Gilles G, Martín, César C

13 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
1-55509693-G-A PCSK9 c.385G>A p.D129N Missense 2/12 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
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 -
1-55518081-A-C PCSK9 c.654A>C p.R218S Missense 4/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55524313-G-A PCSK9 c.1496G>A p.R499H Missense 9/12 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -
1-55509631-T-G PCSK9 c.323T>G p.L108R Missense 2/12 -
1-55518007-CG-GC PCSK9 c.580_581delCGinsGC p.R194A Missense 4/12 -
19-11215968-A-G LDLR c.386A>G p.D129G Missense 4/18 -