PMID: 25266949

Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.

Medical science monitor : international medical journal of experimental and clinical research
Han, Dengfeng D, Ma, Jianhua J, Zhang, Xiaoning X, Cai, Jian J, Li, Jinlan J, Tuerxun, Tuerhong T, Hao, Chenguang C, Du, Lei L, Lei, Jing J
2014-09-30

28 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55523828-C-T PCSK9 c.1300C>T p.R434W Missense 8/12 -
1-55505668-C-G PCSK9 c.158C>G p.A53G Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.A53V Missense 1/12 -
1-55529187-G-A PCSK9 c.2009G>A p.G670E Missense 12/12 -
1-55524237-G-A PCSK9 c.1420G>A p.V474I Missense 9/12 -
1-55512549-T-A PCSK9 c.523+230T>A - IntronicSNV - 3/11
1-55512549-T-C PCSK9 c.523+230T>C - IntronicSNV - 3/11
1-55509872-T-C PCSK9 c.399+165T>C - IntronicSNV - 2/11
2-21250758-T-C APOB c.2009A>G p.E670G Missense 14/29 -
2-21252820-T-C APOB c.1420A>G p.I474V Missense 11/29 -
1-55516004-C-A PCSK9 c.524-1947C>A - IntronicSNV - 3/11
1-55517344-C-G PCSK9 c.524-607C>G - IntronicSNV - 3/11
1-55517344-C-T PCSK9 c.524-607C>T - IntronicSNV - 3/11
1-55509213-G-A PCSK9 c.208-303G>A - IntronicSNV - 1/11
1-55509213-G-C PCSK9 c.208-303G>C - IntronicSNV - 1/11
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
1-55524197-A-C PCSK9 c.1380A>C p.V460= Synonymous 9/12 -
1-55524197-A-G PCSK9 c.1380A>G p.V460= Synonymous 9/12 -
1-55525315-C-A PCSK9 c.1660C>A p.Q554K Missense 10/12 -
1-55521109-G-A PCSK9 c.800-557G>A - IntronicSNV - 5/11
1-55521109-G-C PCSK9 c.800-557G>C - IntronicSNV - 5/11
1-55525400-G-A PCSK9 c.1681+64G>A - IntronicSNV - 10/11
1-55520864-A-G PCSK9 c.800-802A>G - IntronicSNV - 5/11
1-55525315-C-G PCSK9 c.1660C>G p.Q554E Missense 10/12 -
1-55518682-C-T PCSK9 c.799+218C>T - IntronicSNV - 5/11
1-55528807-G-C PCSK9 c.1864-235G>C - IntronicSNV - 11/11
1-55513521-C-A PCSK9 c.523+1202C>A - IntronicSNV - 3/11
1-55513521-C-G PCSK9 c.523+1202C>G - IntronicSNV - 3/11