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
D Han, J Ma, X Zhang, J Cai, J Li, T Tuerxun, C Hao, L Du, J Lei
2014-09-30

27 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-55509213-G-C PCSK9 c.208-303G>C - IntronicSNV - 1/11
1-55509213-G-A PCSK9 c.208-303G>A - IntronicSNV - 1/11
1-55512549-T-A PCSK9 c.523+230T>A - IntronicSNV - 3/11
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55525315-C-A PCSK9 c.1660C>A p.Gln554Lys Missense 10/12 -
1-55520864-A-G PCSK9 c.800-802A>G - IntronicSNV - 5/11
1-55521109-G-A PCSK9 c.800-557G>A - IntronicSNV - 5/11
1-55525315-C-G PCSK9 c.1660C>G p.Gln554Glu Missense 10/12 -
1-55512549-T-C PCSK9 c.523+230T>C - IntronicSNV - 3/11
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
2-21250758-T-C APOB c.2009A>G p.Glu670Gly Missense 14/29 -
1-55525400-G-A PCSK9 c.1681+64G>A - IntronicSNV - 10/11
1-55518682-C-T PCSK9 c.799+218C>T - IntronicSNV - 5/11
1-55528807-G-C PCSK9 c.1864-235G>C - IntronicSNV - 11/11
1-55524197-A-C PCSK9 c.1380A>C p.Val460Val Synonymous 9/12 -
1-55517344-C-T PCSK9 c.524-607C>T - IntronicSNV - 3/11
1-55524197-A-G PCSK9 c.1380A>G p.Val460Val Synonymous 9/12 -
1-55509872-T-C PCSK9 c.399+165T>C - IntronicSNV - 2/11
1-55516004-C-A PCSK9 c.524-1947C>A - IntronicSNV - 3/11
1-55517344-C-G PCSK9 c.524-607C>G - IntronicSNV - 3/11
1-55523828-C-T PCSK9 c.1300C>T p.Arg434Trp Missense 8/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55513521-C-G PCSK9 c.523+1202C>G - IntronicSNV - 3/11
1-55513521-C-A PCSK9 c.523+1202C>A - IntronicSNV - 3/11
1-55521109-G-C PCSK9 c.800-557G>C - IntronicSNV - 5/11