PMID: 18197702

Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber, MF Linton, S Fazio
2008-02-12

16 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55509616-C-A PCSK9 c.308C>A p.Ala103Asp Missense 2/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
1-55518422-CTC-GAG PCSK9 c.757_759delCTCinsGAG p.Leu253Glu Missense 5/12 -
1-55523077-G-A PCSK9 c.1070G>A p.Arg357His Missense 7/12 -
1-55509567-C-A PCSK9 c.259C>A p.His87Asn Missense 2/12 -
1-55521788-G-A PCSK9 c.922G>A p.Gly308Arg Missense 6/12 -
1-55518374-C-T PCSK9 c.709C>T p.Arg237Trp Missense 5/12 -
1-55524256-A-G PCSK9 c.1439A>G p.Asp480Gly Missense 9/12 -
1-55521788-G-C PCSK9 c.922G>C p.Gly308Arg Missense 6/12 -
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 -
1-55523133-A-G PCSK9 c.1126A>G p.Ser376Gly Missense 7/12 -
1-55512267-C-A PCSK9 c.471C>A p.Asn157Lys Missense 3/12 -