PMID: 29931148

Anti-PCSK9 treatment: is ultra-low low-density lipoprotein cholesterol always good?

Cardiovascular research
D Noto, A Giammanco, CM Barbagallo, AB Cefal├╣, MR Averna
2018-10-01

26 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 -
1-55509552-CT-TA PCSK9 c.244_245delCTinsTA p.Leu82* Nonsense 2/12 -
1-63063287-CC-AA ANGPTL3 c.50_51delCCinsAA p.Ser17* Nonsense 1/7 -
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
1-63063622-GA-AC ANGPTL3 c.385_386delGAinsAC p.Glu129Thr Missense 1/7 -
1-55505712-CG-C PCSK9 c.202delG p.Ala68Profs*15 Frameshift 1/12 -
1-55523127-G-C PCSK9 c.1120G>C p.Asp374His Missense 7/12 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
1-241682930-CGC-TTT FH c.91_93delGCGinsTTT p.Ala31Phe Missense 1/10 -
1-55505613-G-T PCSK9 c.103G>T p.Asp35Tyr Missense 1/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55518071-G-A PCSK9 c.644G>A p.Arg215His Missense 4/12 -
1-55509598-CGCC-C PCSK9 c.290_292delGCC p.Arg97delArg InFrameDeletion 2/12 -
1-55509631-T-G PCSK9 c.323T>G p.Leu108Arg Missense 2/12 -
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55509649-T-C PCSK9 c.341T>C p.Val114Ala Missense 2/12 -
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
7-44578607-GCG-TGG NPC1L1 c.1387_1389delCGCinsTGG p.Arg463Trp Missense 2/20 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55509618-C-T PCSK9 c.310C>T p.Arg104Cys Missense 2/12 -
1-55509694-A-G PCSK9 c.386A>G p.Asp129Gly Missense 2/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
5-74648496-G-T HMGCR c.1368+1069G>T - IntronicSNV - 11/19