PMID: 32106405

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

International journal of molecular sciences
WR Martin, FC Lightstone, F Cheng
2020-02-25

4 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -