PMID: 27280970

Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

PloS one
S Poirier, HA Hamouda, L Villeneuve, A Demers, G Mayer
2016

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509694-A-G PCSK9 c.386A>G p.Asp129Gly Missense 2/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
19-11221380-C-A LDLR c.993C>A p.Asp331Glu Missense 7/18 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55523828-C-T PCSK9 c.1300C>T p.Arg434Trp Missense 8/12 -
19-11221380-C-G LDLR c.993C>G p.Asp331Glu Missense 7/18 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
1-55523142-TT-GC PCSK9 c.1135_1136delTTinsGC p.Phe379Ala Missense 7/12 -
1-55505601-CAG-AAC PCSK9 c.91_93delCAGinsAAC p.Gln31Asn Missense 1/12 -
1-55509631-T-G PCSK9 c.323T>G p.Leu108Arg Missense 2/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -
1-55525313-A-G PCSK9 c.1658A>G p.His553Arg Missense 10/12 -