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
S Benjannet, J Hamelin, M Chr├ętien, NG Seidah
2012-09-28

37 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509540-TA-GC PCSK9 c.232_233delTAinsGC p.Tyr78Ala Missense 2/12 -
1-55512250-CA-AC PCSK9 c.454_455delCAinsAC p.Gln152Thr Missense 3/12 -
1-55512250-CA-AT PCSK9 c.454_455delCAinsAT p.Gln152Met Missense 3/12 -
19-11221366-C-T LDLR c.979C>T p.His327Tyr Missense 7/18 -
1-55512250-CAG-AAC PCSK9 c.454_456delCAGinsAAC p.Gln152Asn Missense 3/12 -
1-55512250-CAG-GAC PCSK9 c.454_456delCAGinsGAC p.Gln152Asp Missense 3/12 -
1-55509544-T-C PCSK9 c.236T>C p.Val79Ala Missense 2/12 -
1-55512250-C-G PCSK9 c.454C>G p.Gln152Glu Missense 3/12 -
1-55512250-C-A PCSK9 c.454C>A p.Gln152Lys Missense 3/12 -
1-55524255-G-A PCSK9 c.1438G>A p.Asp480Asn Missense 9/12 -
1-55509552-CT-GC PCSK9 c.244_245delCTinsGC p.Leu82Ala Missense 2/12 -
1-55523128-A-G PCSK9 c.1121A>G p.Asp374Gly Missense 7/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
1-55509631-T-G PCSK9 c.323T>G p.Leu108Arg Missense 2/12 -
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -
1-55505709-TG-GC PCSK9 c.199_200delTGinsGC p.Cys67Ala Missense 1/12 -
1-55524309-G-A PCSK9 c.1492G>A p.Glu498Lys Missense 9/12 -
1-55512251-A-T PCSK9 c.455A>T p.Gln152Leu Missense 3/12 -
1-55512208-CC-TA PCSK9 c.412_413delCCinsTA p.Pro138Tyr Missense 3/12 -
1-55512251-A-G PCSK9 c.455A>G p.Gln152Arg Missense 3/12 -
1-55512250-CAG-ATC PCSK9 c.454_456delCAGinsATC p.Gln152Ile Missense 3/12 -
1-55518341-CA-GC PCSK9 c.676_677delCAinsGC p.His226Ala Missense 5/12 -
1-55512251-A-C PCSK9 c.455A>C p.Gln152Pro Missense 3/12 -
1-55512250-CA-TC PCSK9 c.454_455delCAinsTC p.Gln152Ser Missense 3/12 -
11-117100160-CT-GA PCSK7 c.400_401delAGinsGA p.Arg134Glu Missense 3/17 -
1-55512250-CAG-TTT PCSK9 c.454_456delCAGinsTTT p.Gln152Phe Missense 3/12 -
1-55512250-CA-TG PCSK9 c.454_455delCAinsTG p.Gln152Trp Missense 3/12 -
1-55509618-C-T PCSK9 c.310C>T p.Arg104Cys Missense 2/12 -
1-55512250-CAG-TAT PCSK9 c.454_456delCAGinsTAT p.Gln152Tyr Missense 3/12 -
1-55509684-AT-GC PCSK9 c.376_377delATinsGC p.Met126Ala Missense 2/12 -
1-55512250-CA-GT PCSK9 c.454_455delCAinsGT p.Gln152Val Missense 3/12 -
1-55512250-CA-GC PCSK9 c.454_455delCAinsGC p.Gln152Ala Missense 3/12 -
1-55512250-CA-GG PCSK9 c.454_455delCAinsGG p.Gln152Gly Missense 3/12 -
1-55518351-A-G PCSK9 c.686A>G p.His229Arg Missense 5/12 -
1-55512223-AT-CC PCSK9 c.427_428delATinsCC p.Ile143Pro Missense 3/12 -
1-55523127-G-A PCSK9 c.1120G>A p.Asp374Asn Missense 7/12 -
1-55509547-T-C PCSK9 c.239T>C p.Val80Ala Missense 2/12 -