PMID: 22530123

Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.

Neurology research international
Masoodi, Tariq Ahmad TA, Al Shammari, Sulaiman A SA, Al-Muammar, May N MN, Alhamdan, Adel A AA
2012

24 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-45412493-A-C APOE c.940A>C p.S314R Missense 4/4 -
19-45411858-C-A APOE c.305C>A p.P102Q Missense 4/4 -
19-45411858-C-G APOE c.305C>G p.P102R Missense 4/4 -
19-45411034-G-A APOE c.61G>A p.E21K Missense 3/4 -
19-45412041-G-A APOE c.488G>A p.R163H Missense 4/4 -
19-45412167-A-G APOE c.614A>G p.Q205R Missense 4/4 -
19-45412428-G-A APOE c.875G>A p.R292H Missense 4/4 -
19-45412043-A-C APOE c.490A>C p.K164Q Missense 4/4 -
19-45412008-G-A APOE c.455G>A p.R152Q Missense 4/4 -
19-45412289-C-T APOE c.736C>T p.R246C Missense 4/4 -
19-45411857-C-A APOE c.304C>A p.P102T Missense 4/4 -
19-45411902-G-A APOE c.349G>A p.A117T Missense 4/4 -
19-45411151-A-G APOE c.178A>G p.T60A Missense 3/4 -
19-45411947-C-A APOE c.394C>A p.R132S Missense 4/4 -
19-45412002-A-G APOE c.449A>G p.E150G Missense 4/4 -
19-45412118-G-A APOE c.565G>A p.E189K Missense 4/4 -
19-45411963-G-A APOE c.410G>A p.R137H Missense 4/4 -
19-45411969-A-T APOE c.416A>T p.E139V Missense 4/4 -
19-45411121-C-T APOE c.148C>T p.R50C Missense 3/4 -
19-45412197-C-T APOE c.644C>T p.S215F Missense 4/4 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
19-45412013-C-A APOE c.460C>A p.R154S Missense 4/4 -
19-45412040-C-T APOE c.487C>T p.R163C Missense 4/4 -
19-45411100-C-T APOE c.127C>T p.R43C Missense 3/4 -