PMID: 18300938

Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics and genomics
K Ding, IJ Kullo
2008-03

48 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55522425-G-A PCSK9 c.996+563G>A - IntronicSNV - 6/11
1-55524116-C-A PCSK9 c.1355-56C>A - IntronicSNV - 8/11
1-55524116-C-G PCSK9 c.1355-56C>G - IntronicSNV - 8/11
1-55517344-C-G PCSK9 c.524-607C>G - IntronicSNV - 3/11
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55517344-C-T PCSK9 c.524-607C>T - IntronicSNV - 3/11
1-55509624-G-A PCSK9 c.316G>A p.Gly106Arg Missense 2/12 -
1-55509624-G-C PCSK9 c.316G>C p.Gly106Arg Missense 2/12 -
1-55513061-T-C PCSK9 c.523+742T>C - IntronicSNV - 3/11
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55518166-G-C PCSK9 c.657+82G>C - IntronicSNV - 4/11
1-55519015-G-A PCSK9 c.799+551G>A - IntronicSNV - 5/11
1-55507956-G-A PCSK9 c.208-1560G>A - IntronicSNV - 1/11
1-55520265-T-C PCSK9 c.800-1401T>C - IntronicSNV - 5/11
1-55518166-G-T PCSK9 c.657+82G>T - IntronicSNV - 4/11
1-55528629-G-A PCSK9 c.1864-413G>A - IntronicSNV - 11/11
1-55527918-C-T PCSK9 c.1863+689C>T - IntronicSNV - 11/11
1-55512549-T-A PCSK9 c.523+230T>A - IntronicSNV - 3/11
1-55524116-C-T PCSK9 c.1355-56C>T - IntronicSNV - 8/11
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55512267-C-A PCSK9 c.471C>A p.Asn157Lys Missense 3/12 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-55518166-G-A PCSK9 c.657+82G>A - IntronicSNV - 4/11
1-55511471-C-T PCSK9 c.400-725C>T - IntronicSNV - 2/11
1-55527479-A-G PCSK9 c.1863+250A>G - IntronicSNV - 11/11
1-55526428-T-G PCSK9 c.1682-620T>G - IntronicSNV - 10/11
1-55527335-C-T PCSK9 c.1863+106C>T - IntronicSNV - 11/11
1-55526428-T-C PCSK9 c.1682-620T>C - IntronicSNV - 10/11
1-55520864-A-G PCSK9 c.800-802A>G - IntronicSNV - 5/11
1-55529701-G-C PCSK9 c.*444G>C - 3-UTRSNV 12/12 -
1-55519174-G-A PCSK9 c.799+710G>A - IntronicSNV - 5/11
1-55512549-T-C PCSK9 c.523+230T>C - IntronicSNV - 3/11
1-55519015-G-T PCSK9 c.799+551G>T - IntronicSNV - 5/11
1-55507649-C-T PCSK9 c.208-1867C>T - IntronicSNV - 1/11
1-55529701-G-T PCSK9 c.*444G>T - 3-UTRSNV 12/12 -
1-55517861-C-G PCSK9 c.524-90C>G - IntronicSNV - 3/11
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
1-55519174-G-C PCSK9 c.799+710G>C - IntronicSNV - 5/11
1-55518316-C-T PCSK9 c.658-7C>T - IntronicSNV - 4/11
1-55518374-C-T PCSK9 c.709C>T p.Arg237Trp Missense 5/12 -
1-55523483-C-G PCSK9 c.1181-226C>G - IntronicSNV - 7/11
1-55523483-C-T PCSK9 c.1181-226C>T - IntronicSNV - 7/11
1-55523483-C-A PCSK9 c.1181-226C>A - IntronicSNV - 7/11
1-55524197-A-C PCSK9 c.1380A>C p.Val460Val Synonymous 9/12 -
1-55519238-C-T PCSK9 c.799+774C>T - IntronicSNV - 5/11
1-55524197-A-G PCSK9 c.1380A>G p.Val460Val Synonymous 9/12 -
1-55517883-C-G PCSK9 c.524-68C>G - IntronicSNV - 3/11
1-55523361-A-G PCSK9 c.1180+174A>G - IntronicSNV - 7/11