PMID: 30629143

Novel strategies to target proprotein convertase subtilisin kexin 9: beyond monoclonal antibodies.

Cardiovascular research
Seidah, Nabil G NG, Prat, Annik A, Pirillo, Angela A, Catapano, Alberico Luigi AL, Norata, Giuseppe Danilo GD
2019-03-01

9 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55518075-C-A PCSK9 c.648C>A p.F216L Missense 4/12 -
1-55518075-C-G PCSK9 c.648C>G p.F216L Missense 4/12 -
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55509687-A-C PCSK9 c.379A>C p.S127R Missense 2/12 -
1-55512252-G-T PCSK9 c.456G>T p.Q152H Missense 3/12 -
1-55512252-G-C PCSK9 c.456G>C p.Q152H Missense 3/12 -