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 |
| R165W |
Hyperlipoproteinemia Type III | Substitution | Substitution | Missense | Coding | Exon 4 | Reduced binding to LDL receptors. |
Bea et al., 2023 |
| 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 |
Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.