PMID: 23105118

The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal of biological chemistry
YG Saavedra, R Day, NG Seidah
2012-12-21

18 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524180-CT-TA PCSK9 c.1363_1364delCTinsTA p.Leu455* Nonsense 9/12 -
1-55525313-A-G PCSK9 c.1658A>G p.His553Arg Missense 10/12 -
1-55529048-G-A PCSK9 c.1870G>A p.Val624Met Missense 12/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55524262-A-G PCSK9 c.1445A>G p.Glu482Gly Missense 9/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55529182-C-G PCSK9 c.2004C>G p.Ser668Arg Missense 12/12 -
1-55529182-C-A PCSK9 c.2004C>A p.Ser668Arg Missense 12/12 -
1-55523828-C-T PCSK9 c.1300C>T p.Arg434Trp Missense 8/12 -
1-55524201-T-C PCSK9 c.1384T>C p.Ser462Pro Missense 9/12 -
1-55529180-A-C PCSK9 c.2002A>C p.Ser668Arg Missense 12/12 -
1-55525195-G-A PCSK9 c.1540G>A p.Ala514Thr Missense 10/12 -
3-184103862-C-T CHRD c.1847C>T p.Pro616Leu Missense 15/23 -
1-55525200-T-G PCSK9 c.1545T>G p.Phe515Leu Missense 10/12 -
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 -
1-55525315-C-G PCSK9 c.1660C>G p.Gln554Glu Missense 10/12 -
1-55525219-G-A PCSK9 c.1564G>A p.Ala522Thr Missense 10/12 -