PMID: 30779729

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

PLoS computational biology
Marceau West, Rachel R, Lu, Wenbin W, Rotroff, Daniel M DM, Kuenemann, Melaine A MA, Chang, Sheng-Mao SM, Wu, Michael C MC, Wagner, Michael J MJ, Buse, John B JB, Motsinger-Reif, Alison A AA, Fourches, Denis D, Tzeng, Jung-Ying JY
2019-02

26 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55525315-C-A PCSK9 c.1660C>A p.Q554K Missense 10/12 -
19-8434123-G-C ANGPTL4 c.568G>C p.E190Q Missense 4/7 -
1-55521701-C-A PCSK9 c.835C>A p.P279T Missense 6/12 -
1-55521701-C-G PCSK9 c.835C>G p.P279A Missense 6/12 -
1-55525229-G-C PCSK9 c.1574G>C p.R525T Missense 10/12 -
1-55529153-C-G PCSK9 c.1975C>G p.R659G Missense 12/12 -
1-55529153-C-T PCSK9 c.1975C>T p.R659W Missense 12/12 -
1-55524214-G-A PCSK9 c.1397G>A p.G466E Missense 9/12 -
1-55518419-G-A PCSK9 c.754G>A p.V252M Missense 5/12 -
1-55518419-G-C PCSK9 c.754G>C p.V252L Missense 5/12 -
1-55521713-C-A PCSK9 c.847C>A p.L283M Missense 6/12 -
1-55527222-A-C PCSK9 c.1856A>C p.Q619P Missense 11/12 -
1-55527222-A-T PCSK9 c.1856A>T p.Q619L Missense 11/12 -
1-55523178-C-A PCSK9 c.1171C>A p.H391N Missense 7/12 -
1-55525315-C-G PCSK9 c.1660C>G p.Q554E Missense 10/12 -
1-55512267-C-A PCSK9 c.471C>A p.N157K Missense 3/12 -
1-55523855-G-A PCSK9 c.1327G>A p.A443T Missense 8/12 -
1-55509585-C-T PCSK9 c.277C>T p.R93C Missense 2/12 -
19-11224041-A-G LDLR c.1274A>G p.N425S Missense 9/18 -
1-55509594-C-T PCSK9 c.286C>T p.R96C Missense 2/12 -
1-55523802-A-G PCSK9 c.1274A>G p.N425S Missense 8/12 -
1-55518422-C-T PCSK9 c.757C>T p.L253F Missense 5/12 -
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 -
1-55524309-G-A PCSK9 c.1492G>A p.E498K Missense 9/12 -