PMID: 26195630

Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal of biological chemistry
QT Le, M Blanchet, NG Seidah, P Labonté
2015-09-18

29 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509694-A-G PCSK9 c.386A>G p.Asp129Gly Missense 2/12 -
1-55523828-C-T PCSK9 c.1300C>T p.Arg434Trp Missense 8/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
19-11224041-A-G LDLR c.1274A>G p.Asn425Ser Missense 9/18 -
X-15612990-A-C ACE2 c.323T>G p.Leu108Arg Missense 3/19 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55518371-G-A PCSK9 c.706G>A p.Gly236Ser Missense 5/12 -
1-55523178-C-A PCSK9 c.1171C>A p.His391Asn Missense 7/12 -
1-55518081-A-C PCSK9 c.654A>C p.Arg218Ser Missense 4/12 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
1-55509693-G-A PCSK9 c.385G>A p.Asp129Asn Missense 2/12 -
1-55524172-G-A PCSK9 c.1355G>A p.Gly452Asp Missense 9/12 -
1-55529048-G-A PCSK9 c.1870G>A p.Val624Met Missense 12/12 -
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
1-55523077-G-A PCSK9 c.1070G>A p.Arg357His Missense 7/12 -
1-55525195-G-A PCSK9 c.1540G>A p.Ala514Thr Missense 10/12 -
1-55509585-C-T PCSK9 c.277C>T p.Arg93Cys Missense 2/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55505671-A-C PCSK9 c.161A>C p.Glu54Ala Missense 1/12 -
1-55518381-C-A PCSK9 c.716C>A p.Ala239Asp Missense 5/12 -
1-55523142-TT-GC PCSK9 c.1135_1136delTTinsGC p.Phe379Ala Missense 7/12 -
1-241671928-T-G FH c.713A>C p.Asp238Ala Missense 5/10 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -
1-55525219-G-A PCSK9 c.1564G>A p.Ala522Thr Missense 10/12 -
1-55523068-A-T PCSK9 c.1061A>T p.Asn354Ile Missense 7/12 -
19-11216226-G-A LDLR c.644G>A p.Arg215His Missense 4/18 -
1-55518007-CG-GC PCSK9 c.580_581delCGinsGC p.Arg194Ala Missense 4/12 -
1-55525313-A-G PCSK9 c.1658A>G p.His553Arg Missense 10/12 -