PMID: 23675525

Proprotein convertase subtilisin/kexin type 9 (PCSK9) can mediate degradation of the low density lipoprotein receptor-related protein 1 (LRP-1).

PloS one
M Canuel, X Sun, MC Asselin, E Paramithiotis, A Prat, NG Seidah
2013

3 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 -
19-11221366-C-T LDLR c.979C>T p.His327Tyr Missense 7/18 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -