PMID: 23990795

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

PLoS genetics
Benitez, Bruno A BA, Karch, Celeste M CM, Cai, Yefei Y, Jin, Sheng Chih SC, Cooper, Breanna B, Carrell, David D, Bertelsen, Sarah S, Chibnik, Lori L, Schneider, Julie A JA, Bennett, David A DA, , , , , Fagan, Anne M AM, Holtzman, David D, Morris, John C JC, Goate, Alison M AM, Cruchaga, Carlos C
2013

28 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
21-27254073-C-A APP c.2221G>T p.A741S Missense 18/18 -
17-42428436-G-A GRN c.740G>A p.C247Y Missense 8/13 -
14-73415929-G-T DCAF4 c.728+2030G>T - IntronicSNV - 8/13
14-73424292-C-A DCAF4 c.1295-1028C>A - IntronicSNV - 13/13
14-73424292-C-G DCAF4 c.1295-1028C>G - IntronicSNV - 13/13
14-73682184-G-A PSEN1 c.1130-1650G>A - IntronicSNV - 10/11
14-73682184-G-T PSEN1 c.1130-1650G>T - IntronicSNV - 10/11
19-34887249-C-G GPI c.1106C>G p.T369S Missense 13/18 -
19-34887248-A-T GPI c.1105A>T p.T369S Missense 13/18 -
17-42428153-C-G GRN c.693C>G p.C231W Missense 7/13 -
17-42429576-C-T GRN c.1373C>T p.P458L Missense 11/13 -
14-73637605-T-G PSEN1 c.188T>G p.V63G Missense 4/12 -
19-45411082-G-A APOE c.109G>A p.E37K Missense 3/4 -
10-104416046-AG-CT TRIM8 c.952_953delAGinsCT p.S318L Missense 5/6 -
14-73421186-C-T DCAF4 c.1000C>T p.L334F Missense 11/14 -
1-227079522-A-G PSEN2 c.1049A>G p.E350G Missense 11/13 -
1-227079522-A-T PSEN2 c.1049A>T p.E350V Missense 11/13 -
1-227077748-T-G PSEN2 c.800T>G p.V267G Missense 9/13 -
14-73673178-A-G PSEN1 c.953A>G p.E318G Missense 9/12 -
1-227071475-C-T PSEN2 c.211C>T p.R71W Missense 5/13 -
14-73685869-G-C PSEN1 c.1276G>C p.A426P Missense 12/12 -
14-73637521-G-A PSEN1 c.104G>A p.R35Q Missense 4/12 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
1-227071449-G-A PSEN2 c.185G>A p.R62H Missense 5/13 -
11-78091150-C-A GAB2 c.75+37542G>T - IntronicSNV - 1/9
17-42429500-C-T GRN c.1297C>T p.R433W Missense 11/13 -
17-42426587-C-T GRN c.55C>T p.R19W Missense 2/13 -
21-27394161-A-C APP c.860T>G p.V287G Missense 6/18 -