PMID: 22875854

Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal of biological chemistry
Benjannet, Suzanne S, Hamelin, Josée J, Chrétien, Michel M, Seidah, Nabil G NG
2012-09-28

43 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523127-G-C PCSK9 c.1120G>C p.D374H Missense 7/12 -
1-55512252-G-T PCSK9 c.456G>T p.Q152H Missense 3/12 -
1-55512250-CAG-GAC PCSK9 c.454_456delCAGinsGAC p.Q152D Missense 3/12 -
1-55512252-G-C PCSK9 c.456G>C p.Q152H Missense 3/12 -
1-55509631-T-G PCSK9 c.323T>G p.L108R Missense 2/12 -
1-55523127-G-A PCSK9 c.1120G>A p.D374N Missense 7/12 -
1-55509618-C-T PCSK9 c.310C>T p.R104C Missense 2/12 -
19-11221366-C-T LDLR c.979C>T p.H327Y Missense 7/18 -
1-55524309-G-A PCSK9 c.1492G>A p.E498K Missense 9/12 -
1-55512250-CA-TC PCSK9 c.454_455delCAinsTC p.Q152S Missense 3/12 -
1-55518341-CA-GC PCSK9 c.676_677delCAinsGC p.H226A Missense 5/12 -
1-55512250-CA-AT PCSK9 c.454_455delCAinsAT p.Q152M Missense 3/12 -
1-55512250-CA-GT PCSK9 c.454_455delCAinsGT p.Q152V Missense 3/12 -
1-55505709-TG-GC PCSK9 c.199_200delTGinsGC p.C67A Missense 1/12 -
1-55512250-CA-GC PCSK9 c.454_455delCAinsGC p.Q152A Missense 3/12 -
1-55512250-CA-GG PCSK9 c.454_455delCAinsGG p.Q152G Missense 3/12 -
1-55512251-A-T PCSK9 c.455A>T p.Q152L Missense 3/12 -
1-55512250-CA-AC PCSK9 c.454_455delCAinsAC p.Q152T Missense 3/12 -
1-55523127-GAC-AAG PCSK9 c.1120_1122delGACinsAAG p.D374K Missense 7/12 -
1-55512250-C-A PCSK9 c.454C>A p.Q152K Missense 3/12 -
1-55512250-C-G PCSK9 c.454C>G p.Q152E Missense 3/12 -
1-55523127-GA-CT PCSK9 c.1120_1121delGAinsCT p.D374L Missense 7/12 -
1-55518351-A-G PCSK9 c.686A>G p.H229R Missense 5/12 -
1-55524255-G-A PCSK9 c.1438G>A p.D480N Missense 9/12 -
1-55512251-A-C PCSK9 c.455A>C p.Q152P Missense 3/12 -
1-55509552-CT-GC PCSK9 c.244_245delCTinsGC p.L82A Missense 2/12 -
1-55509540-TA-GC PCSK9 c.232_233delTAinsGC p.Y78A Missense 2/12 -
1-55512250-CAG-AAC PCSK9 c.454_456delCAGinsAAC p.Q152N Missense 3/12 -
1-55512250-CAG-TTT PCSK9 c.454_456delCAGinsTTT p.Q152F Missense 3/12 -
11-117100160-CT-TC PCSK7 c.400_401delAGinsGA p.R134E Missense 3/17 -
1-55512223-AT-CC PCSK9 c.427_428delATinsCC p.I143P Missense 3/12 -
1-55512251-A-G PCSK9 c.455A>G p.Q152R Missense 3/12 -
1-55512208-CC-TA PCSK9 c.412_413delCCinsTA p.P138Y Missense 3/12 -
1-55512250-CA-TG PCSK9 c.454_455delCAinsTG p.Q152W Missense 3/12 -
1-55512250-CAG-TAT PCSK9 c.454_456delCAGinsTAT p.Q152Y Missense 3/12 -
1-55509684-AT-GC PCSK9 c.376_377delATinsGC p.M126A Missense 2/12 -
1-55509544-T-C PCSK9 c.236T>C p.V79A Missense 2/12 -
1-55523128-A-G PCSK9 c.1121A>G p.D374G Missense 7/12 -
1-55512250-CAG-ATC PCSK9 c.454_456delCAGinsATC p.Q152I Missense 3/12 -
1-55523129-C-G PCSK9 c.1122C>G p.D374E Missense 7/12 -
1-55523129-C-A PCSK9 c.1122C>A p.D374E Missense 7/12 -
1-55509547-T-C PCSK9 c.239T>C p.V80A Missense 2/12 -
1-55523127-GA-CC PCSK9 c.1120_1121delGAinsCC p.D374P Missense 7/12 -