PMID: 20699424

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population.

Journal of lipid research
I Guella, R Asselta, D Ardissino, PA Merlini, F Peyvandi, S Kathiresan, PM Mannucci, M Tubaro, S Duga
2010-11

15 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55514073-C-G PCSK9 c.523+1754C>G - IntronicSNV - 3/11
1-55518682-C-T PCSK9 c.799+218C>T - IntronicSNV - 5/11
1-55513061-T-C PCSK9 c.523+742T>C - IntronicSNV - 3/11
1-55532742-G-T USP24 c.*1976C>A - 3-UTRSNV 68/68 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55527479-A-G PCSK9 c.1863+250A>G - IntronicSNV - 11/11
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55524842-G-A PCSK9 c.1504-317G>A - IntronicSNV - 9/11
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55541896-T-C USP24 c.7381-700A>G - IntronicSNV - 62/67
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
1-55532742-G-C USP24 c.*1976C>G - 3-UTRSNV 68/68 -
1-55521109-G-C PCSK9 c.800-557G>C - IntronicSNV - 5/11
1-55521109-G-A PCSK9 c.800-557G>A - IntronicSNV - 5/11
1-55518467-A-G PCSK9 c.799+3A>G - IntronicSNV - 5/11