PMID: 25412415

Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal of clinical endocrinology and metabolism
Tsai, Ching-Wei CW, North, Kari E KE, Tin, Adrienne A, Haack, Karin K, Franceschini, Nora N, Saroja Voruganti, V V, Laston, Sandy S, Zhang, Ying Y, Best, Lyle G LG, MacCluer, Jean W JW, Beaty, Terri H TH, Navas-Acien, Ana A, Kao, W H Linda WH, Howard, Barbara V BV
2015-02

29 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505651-C-T PCSK9 c.141C>T p.S47= Synonymous 1/12 -
1-55521701-C-A PCSK9 c.835C>A p.P279T Missense 6/12 -
1-55524214-G-A PCSK9 c.1397G>A p.G466E Missense 9/12 -
1-55527222-A-C PCSK9 c.1856A>C p.Q619P Missense 11/12 -
1-55509644-G-T PCSK9 c.336G>T p.L112= Synonymous 2/12 -
1-55509644-G-A PCSK9 c.336G>A p.L112= Synonymous 2/12 -
1-55509644-G-C PCSK9 c.336G>C p.L112= Synonymous 2/12 -
1-55509642-C-T PCSK9 c.334C>T p.L112= Synonymous 2/12 -
1-55509619-G-A PCSK9 c.311G>A p.R104H Missense 2/12 -
1-55529156-G-C PCSK9 c.1978G>C p.D660H Missense 12/12 -
1-55509660-C-T PCSK9 c.352C>T p.L118F Missense 2/12 -
1-55523037-C-A PCSK9 c.1030C>A p.Q344K Missense 7/12 -
1-55523822-G-A PCSK9 c.1294G>A p.D432N Missense 8/12 -
1-55527093-C-T PCSK9 c.1727C>T p.P576L Missense 11/12 -
1-55523802-A-G PCSK9 c.1274A>G p.N425S Missense 8/12 -
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
1-55524237-G-A PCSK9 c.1420G>A p.V474I Missense 9/12 -
1-55518374-C-T PCSK9 c.709C>T p.R237W Missense 5/12 -
1-55509624-G-A PCSK9 c.316G>A p.G106R Missense 2/12 -
1-55523855-G-A PCSK9 c.1327G>A p.A443T Missense 8/12 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
1-55529187-G-A PCSK9 c.2009G>A p.G670E Missense 12/12 -
1-55509624-G-C PCSK9 c.316G>C p.G106R Missense 2/12 -
1-55512267-C-A PCSK9 c.471C>A p.N157K Missense 3/12 -
1-55518422-C-T PCSK9 c.757C>T p.L253F Missense 5/12 -
1-55524197-A-C PCSK9 c.1380A>C p.V460= Synonymous 9/12 -
1-55525313-A-G PCSK9 c.1658A>G p.H553R Missense 10/12 -
1-55528629-G-A PCSK9 c.1864-413G>A - IntronicSNV - 11/11
1-55524197-A-G PCSK9 c.1380A>G p.V460= Synonymous 9/12 -