PMID: 18300938

Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics and genomics

Ding, Keyue K, Kullo, Iftikhar J IJ

2008-03

44 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55528629-G-A	PCSK9	c.1864-413G>A	-	IntronicSNV	-	11/11
1-55518752-C-T	PCSK9	c.799+288C>T	-	IntronicSNV	-	5/11
1-55523361-A-G	PCSK9	c.1180+174A>G	-	IntronicSNV	-	7/11
1-55520864-A-G	PCSK9	c.800-802A>G	-	IntronicSNV	-	5/11
1-55517344-C-G	PCSK9	c.524-607C>G	-	IntronicSNV	-	3/11
1-55517344-C-T	PCSK9	c.524-607C>T	-	IntronicSNV	-	3/11
1-55512549-T-A	PCSK9	c.523+230T>A	-	IntronicSNV	-	3/11
1-55512549-T-C	PCSK9	c.523+230T>C	-	IntronicSNV	-	3/11
1-55518316-C-T	PCSK9	c.658-7C>T	-	IntronicSNV	-	4/11
1-55527479-A-G	PCSK9	c.1863+250A>G	-	IntronicSNV	-	11/11
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	-
1-55517861-C-G	PCSK9	c.524-90C>G	-	IntronicSNV	-	3/11
1-55517883-C-G	PCSK9	c.524-68C>G	-	IntronicSNV	-	3/11
1-55518166-G-A	PCSK9	c.657+82G>A	-	IntronicSNV	-	4/11
1-55524116-C-A	PCSK9	c.1355-56C>A	-	IntronicSNV	-	8/11
1-55523483-C-A	PCSK9	c.1181-226C>A	-	IntronicSNV	-	7/11
1-55523483-C-G	PCSK9	c.1181-226C>G	-	IntronicSNV	-	7/11
1-55523483-C-T	PCSK9	c.1181-226C>T	-	IntronicSNV	-	7/11
1-55524116-C-G	PCSK9	c.1355-56C>G	-	IntronicSNV	-	8/11
1-55524116-C-T	PCSK9	c.1355-56C>T	-	IntronicSNV	-	8/11
1-55513061-T-C	PCSK9	c.523+742T>C	-	IntronicSNV	-	3/11
1-55527918-C-T	PCSK9	c.1863+689C>T	-	IntronicSNV	-	11/11
1-55507956-G-A	PCSK9	c.208-1560G>A	-	IntronicSNV	-	1/11
1-55518166-G-C	PCSK9	c.657+82G>C	-	IntronicSNV	-	4/11
1-55518166-G-T	PCSK9	c.657+82G>T	-	IntronicSNV	-	4/11
1-55522425-G-A	PCSK9	c.996+563G>A	-	IntronicSNV	-	6/11
1-55520265-T-C	PCSK9	c.800-1401T>C	-	IntronicSNV	-	5/11
1-55507649-C-T	PCSK9	c.208-1867C>T	-	IntronicSNV	-	1/11
1-55511471-C-T	PCSK9	c.400-725C>T	-	IntronicSNV	-	2/11
1-55519238-C-T	PCSK9	c.799+774C>T	-	IntronicSNV	-	5/11
1-55526428-T-G	PCSK9	c.1682-620T>G	-	IntronicSNV	-	10/11
1-55519174-G-A	PCSK9	c.799+710G>A	-	IntronicSNV	-	5/11
1-55519174-G-C	PCSK9	c.799+710G>C	-	IntronicSNV	-	5/11
1-55529701-G-C	PCSK9	c.*444G>C	-	3-UTRSNV	12/12	-
1-55529701-G-T	PCSK9	c.*444G>T	-	3-UTRSNV	12/12	-
1-55527335-C-T	PCSK9	c.1863+106C>T	-	IntronicSNV	-	11/11
1-55519015-G-A	PCSK9	c.799+551G>A	-	IntronicSNV	-	5/11
1-55519015-G-T	PCSK9	c.799+551G>T	-	IntronicSNV	-	5/11
1-55526428-T-C	PCSK9	c.1682-620T>C	-	IntronicSNV	-	10/11
1-55512267-C-A	PCSK9	c.471C>A	p.N157K	Missense	3/12	-
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	-
1-55509624-G-C	PCSK9	c.316G>C	p.G106R	Missense	2/12	-