PMID: 17971861

Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

PloS one
K Ding, SJ McDonough, IJ Kullo
2007-10-31

19 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
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 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55524262-A-G PCSK9 c.1445A>G p.Glu482Gly Missense 9/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55523178-C-A PCSK9 c.1171C>A p.His391Asn Missense 7/12 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-55518422-C-T PCSK9 c.757C>T p.Leu253Phe Missense 5/12 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -
1-55525200-T-G PCSK9 c.1545T>G p.Phe515Leu Missense 10/12 -
1-55525315-C-G PCSK9 c.1660C>G p.Gln554Glu Missense 10/12 -
1-55527222-A-C PCSK9 c.1856A>C p.Gln619Pro Missense 11/12 -
1-55523779-C-A PCSK9 c.1251C>A p.His417Gln Missense 8/12 -
1-55518374-C-T PCSK9 c.709C>T p.Arg237Trp Missense 5/12 -
1-55505679-G-A PCSK9 c.169G>A p.Glu57Lys Missense 1/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -