PMID: 29127338

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific reports
Di Taranto, Maria Donata MD, Benito-Vicente, Asier A, Giacobbe, Carola C, Uribe, Kepa Belloso KB, Rubba, Paolo P, Etxebarria, Aitor A, Guardamagna, Ornella O, Gentile, Marco M, Martín, Cesar C, Fortunato, Giuliana G

10 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 -
19-11224103-C-G LDLR c.1336C>G p.L446V Missense 9/18 -
1-55521857-C-G PCSK9 c.991C>G p.P331A Missense 6/12 -
1-55529106-A-G PCSK9 c.1928A>G p.H643R Missense 12/12 -
1-55524211-C-T PCSK9 c.1394C>T p.S465L Missense 9/12 -
1-55523077-G-A PCSK9 c.1070G>A p.R357H Missense 7/12 -
1-55505613-G-T PCSK9 c.103G>T p.D35Y Missense 1/12 -
1-55529084-A-C PCSK9 c.1906A>C p.S636R Missense 12/12 -
1-55523076-C-T PCSK9 c.1069C>T p.R357C Missense 7/12 -
1-55524222-C-T PCSK9 c.1405C>T p.R469W Missense 9/12 -