PMID: 18498363

PCSK9 is phosphorylated by a Golgi casein kinase-like kinase ex vivo and circulates as a phosphoprotein in humans.

The FEBS journal
T Dewpura, A Raymond, J Hamelin, NG Seidah, M Mbikay, M Chr├ętien, J Mayne
2008-07

16 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505657-G-T PCSK9 c.147G>T p.Glu49Asp Missense 1/12 -
1-55505657-G-C PCSK9 c.147G>C p.Glu49Asp Missense 1/12 -
1-55505623-A-T PCSK9 c.113A>T p.Tyr38Phe Missense 1/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55505660-C-G PCSK9 c.150C>G p.Asp50Glu Missense 1/12 -
1-55505660-C-A PCSK9 c.150C>A p.Asp50Glu Missense 1/12 -
1-55505656-A-C PCSK9 c.146A>C p.Glu49Ala Missense 1/12 -
1-55505653-A-C PCSK9 c.143A>C p.Glu48Ala Missense 1/12 -
1-55505654-G-C PCSK9 c.144G>C p.Glu48Asp Missense 1/12 -
1-55505654-G-T PCSK9 c.144G>T p.Glu48Asp Missense 1/12 -
1-55505659-A-C PCSK9 c.149A>C p.Asp50Ala Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55505649-T-G PCSK9 c.139T>G p.Ser47Ala Missense 1/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55529240-T-G PCSK9 c.2062T>G p.Ser688Ala Missense 12/12 -
1-55529247-A-C PCSK9 c.2069A>C p.Glu690Ala Missense 12/12 -