PMID: 26085104

Amyloid Precursor-like Protein 2 and Sortilin Do Not Regulate the PCSK9 Convertase-mediated Low Density Lipoprotein Receptor Degradation but Interact with Each Other.

The Journal of biological chemistry
C Butkinaree, M Canuel, R Essalmani, S Poirier, S Benjannet, MC Asselin, A Roubtsova, J Hamelin, J Marcinkiewicz, A Chamberland, J Guillemot, G Mayer, SS Sisodia, Y Jacob, A Prat, NG Seidah

2 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
19-11240230-A-T LDLR c.2431A>T p.Lys811* Nonsense 17/18 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -