Mutations Position Table
APOE R165 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R165P (R147P)
(Chicago) |
Kidney Disorder: Lipoprotein Glomerulopathy | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but showed enhanced binding to glomerular capillaries. Also, induced structural changes resulting in reduced ApoE stability. Predicted to disrupt oligomerization, enhance aggregation, and alter receptor and heparin binding. |
Sam et al., 2006 |
| K164_R165delinsNW (K146_R147delinsNW)
(ApoE1 Hammersmith) |
Hyperlipoproteinemia Type III | Deletion-Insertion | Deletion-Insertion | Deletion-Insertion | Coding | Exon 4 | In mice, drastically altered lipid and lipoprotein profiles in blood. May act as dominant-negative receptor ligand and interfere with LPL and LCAT activities. |
Hoffer et al., 1996 |
| K161_R165del (K143_R147del)
|
Blood Lipids/Lipoproteins, Kidney Disorder: Lipoprotein Glomerulopathy | Deletion | Deletion | Deletion | Coding | Exon 4 | Unknown, but expected to alter receptor binding and heparin binding. |
Xie et al., 2019 |
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