PMID: 23663650

Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids in health and disease
J Mayne, TC Ooi, A Raymond, M Cousins, L Bernier, T Dewpura, F Sirois, M Mbikay, J Davignon, M Chr├ętien

15 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55523779-C-A PCSK9 c.1251C>A p.His417Gln Missense 8/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55518043-G-A PCSK9 c.616G>A p.Glu206Lys Missense 4/12 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55509585-C-T PCSK9 c.277C>T p.Arg93Cys Missense 2/12 -
1-230822720-A-G COG2 c.1420A>G p.Ile474Val Missense 13/18 -
2-21250758-T-C APOB c.2009A>G p.Glu670Gly Missense 14/29 -
1-55505571-C-CCTG PCSK9 c.61_62insCTG p.Leu21delinsProval MultiAAMissense 1/12 -
1-55523802-A-G PCSK9 c.1274A>G p.Asn425Ser Missense 8/12 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
1-55525313-A-G PCSK9 c.1658A>G p.His553Arg Missense 10/12 -