PMID: 25904937

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

Frontiers in genetics
NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin
2015

26 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-49140115-C-A DBP c.137G>T p.Ser46Ile Missense 1/4 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55523802-A-G PCSK9 c.1274A>G p.Asn425Ser Missense 8/12 -
1-55524262-A-G PCSK9 c.1445A>G p.Glu482Gly Missense 9/12 -
1-55523178-C-A PCSK9 c.1171C>A p.His391Asn Missense 7/12 -
19-49139218-C-T DBP c.169G>A p.Ala57Thr Missense 2/4 -
19-49138862-G-A DBP c.525C>T p.Leu175Leu Synonymous 2/4 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55517952-C-T PCSK9 c.525C>T p.Asp175Asp Synonymous 4/12 -
1-55512267-C-A PCSK9 c.471C>A p.Asn157Lys Missense 3/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55518422-C-T PCSK9 c.757C>T p.Leu253Phe Missense 5/12 -
1-55527217-C-G PCSK9 c.1851C>G p.Ala617Ala Synonymous 11/12 -
1-55523076-C-T PCSK9 c.1069C>T p.Arg357Cys Missense 7/12 -
1-55518418-C-T PCSK9 c.753C>T p.Arg251Arg Synonymous 5/12 -
1-55523779-C-A PCSK9 c.1251C>A p.His417Gln Missense 8/12 -
1-55527217-C-T PCSK9 c.1851C>T p.Ala617Ala Synonymous 11/12 -
1-55525315-C-G PCSK9 c.1660C>G p.Gln554Glu Missense 10/12 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -
1-55527222-A-C PCSK9 c.1856A>C p.Gln619Pro Missense 11/12 -
1-55525313-A-G PCSK9 c.1658A>G p.His553Arg Missense 10/12 -
1-55512995-G-A PCSK9 c.523+676G>A - IntronicSNV - 3/11
19-49138916-G-T DBP c.471C>A p.Cys157* Nonsense 2/4 -
19-49136706-G-A DBP c.757C>T p.Gln253* Nonsense 3/4 -
1-55505679-G-A PCSK9 c.169G>A p.Glu57Lys Missense 1/12 -
1-55518371-G-A PCSK9 c.706G>A p.Gly236Ser Missense 5/12 -