PMID: 29593095

Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.

The Journal of biological chemistry
P Lebeau, K Platko, AA Al-Hashimi, JH Byun, Š Lhoták, N Holzapfel, G Gyulay, SA Igdoura, DR Cool, B Trigatti, NG Seidah, RC Austin

11 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523163-T-G PCSK9 c.1156T>G p.Ser386Ala Missense 7/12 -
22-39917490-G-A ATF4 c.40G>A p.Gly14Arg Missense 1/2 -
22-39917490-G-C ATF4 c.40G>C p.Gly14Arg Missense 1/2 -
1-55518371-G-A PCSK9 c.706G>A p.Gly236Ser Missense 5/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
1-55512250-CA-TC PCSK9 c.454_455delCAinsTC p.Gln152Ser Missense 3/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55523068-A-T PCSK9 c.1061A>T p.Asn354Ile Missense 7/12 -
1-55512250-CAG-GAC PCSK9 c.454_456delCAGinsGAC p.Gln152Asp Missense 3/12 -
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -
12-104325299-G-T HSP90B1 c.50G>T p.Gly17Val Missense 2/18 -