PMID: 25210046

The proprotein convertase subtilisin/kexin type 9 (PCSK9) active site and cleavage sequence differentially regulate protein secretion from proteolysis.

The Journal of biological chemistry
JS Chorba, KM Shokat
2014-10-17

10 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
1-55512251-A-G PCSK9 c.455A>G p.Gln152Arg Missense 3/12 -
1-55512259-C-G PCSK9 c.463C>G p.Pro155Ala Missense 3/12 -
1-55512242-T-C PCSK9 c.446T>C p.Val149Ala Missense 3/12 -
1-55512250-C-T PCSK9 c.454C>T p.Gln152* Nonsense 3/12 -
1-55512244-TT-GC PCSK9 c.448_449delTTinsGC p.Phe150Ala Missense 3/12 -
1-55512238-T-G PCSK9 c.442T>G p.Ser148Ala Missense 3/12 -
1-55512250-CAG-ATC PCSK9 c.454_456delCAGinsATC p.Gln152Ile Missense 3/12 -
1-55523163-T-G PCSK9 c.1156T>G p.Ser386Ala Missense 7/12 -