PMID: 29127338

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

Scientific reports
MD Di Taranto, A Benito-Vicente, C Giacobbe, KB Uribe, P Rubba, A Etxebarria, O Guardamagna, M Gentile, C Martín, G Fortunato

12 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
19-11213410-G-A LDLR c.261G>A p.Trp87* Nonsense 3/18 -
19-11213409-G-A LDLR c.260G>A p.Trp87* Nonsense 3/18 -
1-55529106-A-G PCSK9 c.1928A>G p.His643Arg Missense 12/12 -
1-55529084-A-C PCSK9 c.1906A>C p.Ser636Arg Missense 12/12 -
1-55523076-C-T PCSK9 c.1069C>T p.Arg357Cys Missense 7/12 -
1-55523077-G-A PCSK9 c.1070G>A p.Arg357His Missense 7/12 -
1-55521857-C-G PCSK9 c.991C>G p.Pro331Ala Missense 6/12 -
1-55524211-C-T PCSK9 c.1394C>T p.Ser465Leu Missense 9/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-11224103-C-G LDLR c.1336C>G p.Leu446Val Missense 9/18 -
1-55505613-G-T PCSK9 c.103G>T p.Asp35Tyr Missense 1/12 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -