PMID: 27534510

Point mutations at the catalytic site of PCSK9 inhibit folding, autoprocessing, and interaction with the LDL receptor.

Protein science : a publication of the Protein Society
CW Garvie, CV Fraley, NH Elowe, EK Culyba, CT Lemke, BK Hubbard, VK Kaushik, DS Daniels

5 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512250-C-T PCSK9 c.454C>T p.Gln152* Nonsense 3/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
1-55523163-T-G PCSK9 c.1156T>G p.Ser386Ala Missense 7/12 -
1-55512250-CAG-AAC PCSK9 c.454_456delCAGinsAAC p.Gln152Asn Missense 3/12 -
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -