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
JS Chorba, AM Galvan, KM Shokat
2018-02-09

26 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512299-C-A PCSK9 c.503C>A p.Ala168Glu Missense 3/12 -
1-55509585-C-T PCSK9 c.277C>T p.Arg93Cys Missense 2/12 -
1-55518082-C-G PCSK9 c.655C>G p.Gln219Glu Missense 4/12 -
1-55509624-G-C PCSK9 c.316G>C p.Gly106Arg Missense 2/12 -
1-55523068-A-T PCSK9 c.1061A>T p.Asn354Ile Missense 7/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55523163-T-G PCSK9 c.1156T>G p.Ser386Ala Missense 7/12 -
1-55524201-T-C PCSK9 c.1384T>C p.Ser462Pro Missense 9/12 -
1-55518371-G-A PCSK9 c.706G>A p.Gly236Ser Missense 5/12 -
1-55512236-C-G PCSK9 c.440C>G p.Ser147Cys Missense 3/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55512250-CA-GC PCSK9 c.454_455delCAinsGC p.Gln152Ala Missense 3/12 -
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
1-55518398-G-A PCSK9 c.733G>A p.Ala245Thr Missense 5/12 -
1-55512253-AGC-CAA PCSK9 c.457_459delAGCinsCAA p.Ser153Gln Missense 3/12 -
1-55509624-G-A PCSK9 c.316G>A p.Gly106Arg Missense 2/12 -
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -
1-55509631-T-G PCSK9 c.323T>G p.Leu108Arg Missense 2/12 -
1-55509694-A-G PCSK9 c.386A>G p.Asp129Gly Missense 2/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55518071-G-A PCSK9 c.644G>A p.Arg215His Missense 4/12 -
1-55512250-CA-AT PCSK9 c.454_455delCAinsAT p.Gln152Met Missense 3/12 -
1-55525219-G-A PCSK9 c.1564G>A p.Ala522Thr Missense 10/12 -
1-55512250-CA-GT PCSK9 c.454_455delCAinsGT p.Gln152Val Missense 3/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -