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

2017-11-10

10 variants were identified in this publication

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