PMID: 23386946

Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure.

Oman medical journal
K Al-Waili, WA Al-Zidi, AR Al-Abri, K Al-Rasadi, HA Al-Sabti, K Shah, A Al-Futaisi, I Al-Zakwani, Y Banerjee
2013-01

3 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-230822720-A-G COG2 c.1420A>G p.Ile474Val Missense 13/18 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -