PMID: 30779729

Identifying individual risk rare variants using protein structure guided local tests (POINT).

PLoS computational biology
R Marceau West, W Lu, DM Rotroff, MA Kuenemann, SM Chang, MC Wu, MJ Wagner, JB Buse, AA Motsinger-Reif, D Fourches, JY Tzeng
2019-02

26 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55527222-A-T PCSK9 c.1856A>T p.Gln619Leu Missense 11/12 -
1-55523802-A-G PCSK9 c.1274A>G p.Asn425Ser Missense 8/12 -
1-55518419-G-C PCSK9 c.754G>C p.Val252Leu Missense 5/12 -
19-11224041-A-G LDLR c.1274A>G p.Asn425Ser Missense 9/18 -
1-55523178-C-A PCSK9 c.1171C>A p.His391Asn Missense 7/12 -
1-55512267-C-A PCSK9 c.471C>A p.Asn157Lys Missense 3/12 -
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 -
1-55529153-C-T PCSK9 c.1975C>T p.Arg659Trp Missense 12/12 -
1-55509585-C-T PCSK9 c.277C>T p.Arg93Cys Missense 2/12 -
1-55521701-C-A PCSK9 c.835C>A p.Pro279Thr Missense 6/12 -
1-55524309-G-A PCSK9 c.1492G>A p.Glu498Lys Missense 9/12 -
1-55525315-C-A PCSK9 c.1660C>A p.Gln554Lys Missense 10/12 -
1-55524214-G-A PCSK9 c.1397G>A p.Gly466Glu Missense 9/12 -
19-8434123-G-C ANGPTL4 c.568G>C p.Glu190Gln Missense 4/7 -
1-55518419-G-A PCSK9 c.754G>A p.Val252Met Missense 5/12 -
1-55521701-C-G PCSK9 c.835C>G p.Pro279Ala Missense 6/12 -
1-55525229-G-C PCSK9 c.1574G>C p.Arg525Thr Missense 10/12 -
1-55525315-C-G PCSK9 c.1660C>G p.Gln554Glu Missense 10/12 -
1-55523779-C-A PCSK9 c.1251C>A p.His417Gln Missense 8/12 -
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 -
1-55529153-C-G PCSK9 c.1975C>G p.Arg659Gly Missense 12/12 -
1-55521713-C-A PCSK9 c.847C>A p.Leu283Met Missense 6/12 -
1-55509594-C-T PCSK9 c.286C>T p.Arg96Cys Missense 2/12 -