PMID: 32106405

In Silico Insights into Protein-protein Interaction Disruptive Mutations in the PCSK9-LDLR complex.

International journal of molecular sciences
Martin, William R WR, Lightstone, Felice C FC, Cheng, Feixiong F
2020-02-25

8 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55524303-C-T PCSK9 c.1486C>T p.R496W Missense 9/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
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 -
1-55518075-C-A PCSK9 c.648C>A p.F216L Missense 4/12 -
1-55518075-C-G PCSK9 c.648C>G p.F216L Missense 4/12 -