PMID: 29259136

Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal of biological chemistry
Chorba, John S JS, Galvan, Adri M AM, Shokat, Kevan M KM
2018-02-09

28 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512250-CA-GC PCSK9 c.454_455delCAinsGC p.Q152A Missense 3/12 -
1-55512253-AGC-CAA PCSK9 c.457_459delAGCinsCAA p.S153Q Missense 3/12 -
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 -
1-55512236-C-G PCSK9 c.440C>G p.S147C Missense 3/12 -
1-55518082-C-G PCSK9 c.655C>G p.Q219E Missense 4/12 -
1-55518398-G-A PCSK9 c.733G>A p.A245T Missense 5/12 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55518075-C-A PCSK9 c.648C>A p.F216L Missense 4/12 -
1-55518075-C-G PCSK9 c.648C>G p.F216L Missense 4/12 -
1-55509624-G-A PCSK9 c.316G>A p.G106R Missense 2/12 -
1-55509624-G-C PCSK9 c.316G>C p.G106R Missense 2/12 -
1-55518371-G-A PCSK9 c.706G>A p.G236S Missense 5/12 -
1-55523068-A-T PCSK9 c.1061A>T p.N354I Missense 7/12 -
1-55512252-G-T PCSK9 c.456G>T p.Q152H Missense 3/12 -
1-55512252-G-C PCSK9 c.456G>C p.Q152H Missense 3/12 -
1-55509694-A-G PCSK9 c.386A>G p.D129G Missense 2/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
1-55525219-G-A PCSK9 c.1564G>A p.A522T Missense 10/12 -
1-55509585-C-T PCSK9 c.277C>T p.R93C Missense 2/12 -
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 -
1-55518071-G-A PCSK9 c.644G>A p.R215H Missense 4/12 -
1-55512299-C-A PCSK9 c.503C>A p.A168E Missense 3/12 -
1-55524201-T-C PCSK9 c.1384T>C p.S462P Missense 9/12 -