PMID: 30076208

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal of lipid research
Zhou, Yitian Y, M├Ągi, Reedik R, Milani, Lili L, Lauschke, Volker M VM
2018-10

39 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-64210580-A-C APOH c.973T>G p.C325G Missense 7/8 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
19-45412040-C-T APOE c.487C>T p.R163C Missense 4/4 -
11-116691675-T-A APOA4 c.1099A>T p.T367S Missense 3/3 -
11-116691634-C-A APOA4 c.1140G>T p.Q380H Missense 3/3 -
17-64208285-C-G APOH c.1004G>C p.W335S Missense 8/8 -
6-31625507-G-A APOM c.541+7G>A - IntronicSNV - 5/5
2-21250914-G-A APOB c.1853C>T p.A618V Missense 14/29 -
2-21260084-G-A APOB c.581C>T p.T194M Missense 6/29 -
6-31625507-G-T APOM c.541+7G>T - IntronicSNV - 5/5
2-21233972-T-C APOB c.5768A>G p.H1923R Missense 26/29 -
2-21260934-G-A APOB c.433C>T p.P145S Missense 5/29 -
2-21228827-C-T APOB c.10913G>A p.R3638Q Missense 26/29 -
19-45412337-G-A APOE c.784G>A p.E262K Missense 4/4 -
19-45412340-G-A APOE c.787G>A p.E263K Missense 4/4 -
17-64216815-C-T APOH c.461G>A p.R154H Missense 5/8 -
19-45411025-G-A APOE c.52G>A p.A18T Missense 3/4 -
2-21229446-G-C APOB c.10294C>G p.Q3432E Missense 26/29 -
2-21233999-T-C APOB c.5741A>G p.N1914S Missense 26/29 -
2-115205432-T-A DPP10 c.60+5017T>A - IntronicSNV - 1/25
9-97522120-AGC-TGG AOPEP c.55_57delAGCinsTGG p.S19W Missense 2/17 -
2-21229905-T-C APOB c.9835A>G p.S3279G Missense 26/29 -
2-115205432-T-G DPP10 c.60+5017T>G - IntronicSNV - 1/25
11-116701353-C-T APOC3 c.55C>T p.R19* Nonsense 2/4 -
2-21232373-G-T APOB c.7367C>A p.A2456D Missense 26/29 -
19-45412172-C-T APOE c.619C>T p.R207C Missense 4/4 -
11-116703640-G-C APOC3 c.*40G>C - 3-UTRSNV 4/4 -
11-116701354-G-A APOC3 c.55+1G>A - IntronicSNV - 2/3
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
2-21238007-G-T APOB c.3634C>A p.L1212M Missense 23/29 -
2-21252534-G-A APOB c.1594C>T p.R532W Missense 12/29 -
2-21229860-A-G APOB c.9880T>C p.S3294P Missense 26/29 -
2-21263900-G-A APOB c.293C>T p.T98I Missense 4/29 -
2-21232195-G-A APOB c.7545C>T p.T2515= Synonymous 26/29 -
2-21225753-C-T APOB c.12541G>A p.E4181K Missense 29/29 -
11-116701560-G-A APOC3 c.127G>A p.A43T Missense 3/4 -
2-21231524-G-A APOB c.8216C>T p.P2739L Missense 26/29 -
2-21225281-C-T APOB c.13013G>A p.S4338N Missense 29/29 -