PMID: 25904937

PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers in genetics
Tran, Ngan T NT, Aslibekyan, Stella S, Tiwari, Hemant K HK, Zhi, Degui D, Sung, Yun Ju YJ, Hunt, Steven C SC, Rao, D C DC, Broeckel, Ulrich U, Judd, Suzanne E SE, Muntner, Paul P, Kent, Shia T ST, Arnett, Donna K DK, Irvin, Marguerite R MR
2015

26 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523178-C-A PCSK9 c.1171C>A p.H391N Missense 7/12 -
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
1-55523802-A-G PCSK9 c.1274A>G p.N425S Missense 8/12 -
1-55523076-C-T PCSK9 c.1069C>T p.R357C Missense 7/12 -
1-55525313-A-G PCSK9 c.1658A>G p.H553R Missense 10/12 -
1-55524222-C-T PCSK9 c.1405C>T p.R469W Missense 9/12 -
1-55523779-C-A PCSK9 c.1251C>A p.H417Q Missense 8/12 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
1-55529187-G-A PCSK9 c.2009G>A p.G670E Missense 12/12 -
1-55518371-G-A PCSK9 c.706G>A p.G236S Missense 5/12 -
1-55512267-C-A PCSK9 c.471C>A p.N157K Missense 3/12 -
1-55518422-C-T PCSK9 c.757C>T p.L253F Missense 5/12 -
1-55512995-G-A PCSK9 c.523+676G>A - IntronicSNV - 3/11
1-55527222-A-C PCSK9 c.1856A>C p.Q619P Missense 11/12 -
1-55505679-G-A PCSK9 c.169G>A p.E57K Missense 1/12 -
1-55524262-A-G PCSK9 c.1445A>G p.E482G Missense 9/12 -
1-55525315-C-G PCSK9 c.1660C>G p.Q554E Missense 10/12 -
19-49140115-C-A DBP c.137G>T p.S46I Missense 1/4 -
19-49139218-C-T DBP c.169G>A p.A57T Missense 2/4 -
19-49138916-G-T DBP c.471C>A p.C157* Nonsense 2/4 -
19-49136706-G-A DBP c.757C>T p.Q253* Nonsense 3/4 -
1-55527217-C-G PCSK9 c.1851C>G p.A617= Synonymous 11/12 -
1-55527217-C-T PCSK9 c.1851C>T p.A617= Synonymous 11/12 -
19-49138862-G-A DBP c.525C>T p.L175= Synonymous 2/4 -
1-55518418-C-T PCSK9 c.753C>T p.R251= Synonymous 5/12 -
1-55517952-C-T PCSK9 c.525C>T p.D175= Synonymous 4/12 -