PMID: 31686731

Genotyping and Frequency of PCSK9 Variations Among Hypercholesterolemic and Diabetic Subjects.

Indian journal of clinical biochemistry : IJCB
Nuglozeh, Edem E, Fazaludeen, Mohammad Feroze MF, Hasona, Nabil N, Malm, Tarja T, Mayor, Luisito B LB, Al-Hazmi, Awdah A, Ashankyty, Ibraheem I

6 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
1-55505668-C-T PCSK9 c.158C>T p.A53V Missense 1/12 -
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55509687-A-C PCSK9 c.379A>C p.S127R Missense 2/12 -