PMID: 31437157

Proprotein convertase subtilisin/kexin type 9 (PCSK9) in Alzheimer's disease: A genetic and proteomic multi-cohort study.

PloS one
C Picard, A Poirier, S Bélanger, A Labonté, D Auld, J Poirier,
2019

7 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
22-42264269-G-T SREBF2 c.539-346G>T - IntronicSNV - 2/18
22-42264269-G-C SREBF2 c.539-346G>C - IntronicSNV - 2/18
1-55512549-T-A PCSK9 c.523+230T>A - IntronicSNV - 3/11
1-55509872-T-C PCSK9 c.399+165T>C - IntronicSNV - 2/11
1-55512549-T-C PCSK9 c.523+230T>C - IntronicSNV - 3/11