PMID: 16909389

Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

American journal of human genetics
Z Zhao, Y Tuakli-Wosornu, TA Lagace, L Kinch, NV Grishin, JD Horton, JC Cohen, HH Hobbs
2006-09

7 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509598-CGCC-C PCSK9 c.290_292delGCC p.Arg97delArg InFrameDeletion 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55518422-C-T PCSK9 c.757C>T p.Leu253Phe Missense 5/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -