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
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
2015-02

29 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55512267-C-A PCSK9 c.471C>A p.Asn157Lys Missense 3/12 -
1-55509644-G-C PCSK9 c.336G>C p.Leu112Leu Synonymous 2/12 -
1-55509644-G-T PCSK9 c.336G>T p.Leu112Leu Synonymous 2/12 -
1-55523802-A-G PCSK9 c.1274A>G p.Asn425Ser Missense 8/12 -
1-55509624-G-A PCSK9 c.316G>A p.Gly106Arg Missense 2/12 -
1-55509624-G-C PCSK9 c.316G>C p.Gly106Arg Missense 2/12 -
1-55528629-G-A PCSK9 c.1864-413G>A - IntronicSNV - 11/11
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55523037-C-A PCSK9 c.1030C>A p.Gln344Lys Missense 7/12 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-55518422-C-T PCSK9 c.757C>T p.Leu253Phe Missense 5/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
1-55509642-C-T PCSK9 c.334C>T p.Leu112Leu Synonymous 2/12 -
1-55521701-C-A PCSK9 c.835C>A p.Pro279Thr Missense 6/12 -
1-55509619-G-A PCSK9 c.311G>A p.Arg104His Missense 2/12 -
1-55518374-C-T PCSK9 c.709C>T p.Arg237Trp Missense 5/12 -
1-55523822-G-A PCSK9 c.1294G>A p.Asp432Asn Missense 8/12 -
1-55524214-G-A PCSK9 c.1397G>A p.Gly466Glu Missense 9/12 -
1-55509660-C-T PCSK9 c.352C>T p.Leu118Phe Missense 2/12 -
1-55509644-G-A PCSK9 c.336G>A p.Leu112Leu Synonymous 2/12 -
1-55527093-C-T PCSK9 c.1727C>T p.Pro576Leu Missense 11/12 -
1-55525313-A-G PCSK9 c.1658A>G p.His553Arg Missense 10/12 -
1-55529156-G-C PCSK9 c.1978G>C p.Asp660His Missense 12/12 -
1-55527222-A-C PCSK9 c.1856A>C p.Gln619Pro Missense 11/12 -
1-55505651-C-T PCSK9 c.141C>T p.Ser47Ser Synonymous 1/12 -
1-55524197-A-C PCSK9 c.1380A>C p.Val460Val Synonymous 9/12 -
1-55524197-A-G PCSK9 c.1380A>G p.Val460Val Synonymous 9/12 -