PMID: 27896130

Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Molecular genetics and metabolism reports
Wierød, Lene L, Cameron, Jamie J, Strøm, Thea Bismo TB, Leren, Trond P TP
2016-12

11 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505679-G-A PCSK9 c.169G>A p.E57K Missense 1/12 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
1-55509688-GT-AG PCSK9 c.380_381delGTinsAG p.S127K Missense 2/12 -
1-55518079-AGA-CAT PCSK9 c.652_654delAGAinsCAT p.R218H Missense 4/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55518071-G-A PCSK9 c.644G>A p.R215H Missense 4/12 -
1-55518081-A-C PCSK9 c.654A>C p.R218S Missense 4/12 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -
1-55523163-T-G PCSK9 c.1156T>G p.S386A Missense 7/12 -
1-55509631-T-G PCSK9 c.323T>G p.L108R Missense 2/12 -
1-55524180-CT-TA PCSK9 c.1363_1364delCTinsTA p.L455* Nonsense 9/12 -