PMID: 26374825

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular genetics
PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold
2015-12

21 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509594-C-T PCSK9 c.286C>T p.Arg96Cys Missense 2/12 -
15-75093185-GA-AT CSK c.644_645delGAinsAT p.Arg215His Missense 8/13 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
20-3063392-T-G AVP c.379A>C p.Ser127Arg Missense 3/3 -
X-48369869-T-G PORCN c.323T>G p.Leu108Arg Missense 3/13 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55509631-T-G PCSK9 c.323T>G p.Leu108Arg Missense 2/12 -
1-55518071-G-A PCSK9 c.644G>A p.Arg215His Missense 4/12 -
1-55509520-C-T PCSK9 c.212C>T p.Pro71Leu Missense 2/12 -
19-11215967-G-A LDLR c.385G>A p.Asp129Asn Missense 4/18 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
1-55505652-G-A PCSK9 c.142G>A p.Glu48Lys Missense 1/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
20-3063390-G-T AVP c.381C>A p.Ser127Arg Missense 3/3 -
1-55509693-G-A PCSK9 c.385G>A p.Asp129Asn Missense 2/12 -
20-3063390-G-C AVP c.381C>G p.Ser127Arg Missense 3/3 -
12-56679798-C-A CS c.103G>T p.Asp35Tyr Missense 3/11 -
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
12-56669914-TCG-AGC CS c.652_654delCGAinsAGC p.Arg218Ser Missense 7/11 -
1-55524211-C-T PCSK9 c.1394C>T p.Ser465Leu Missense 9/12 -
12-56666875-G-A CS c.1394C>T p.Ser465Leu Missense 11/11 -