Mutations Position Table
APOE K164 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| 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 |
| K164E (K146E)
(ApoE1 Harrisburg) |
Blood Lipids/Lipoproteins, Cardiovascular Disease, Hyperlipoproteinemia Type III | Substitution | Substitution | Missense | Coding | Exon 4 | Reduced receptor and heparin binding, and reduced ApoE turnover. May interfere with the coordination between lipid association and receptor binding. |
Mann et al., 1989; Mann et al., 1995 |
| K164Q (K146Q)
|
Blood Lipids/Lipoproteins, Hyperlipoproteinemia Type III | Substitution | Substitution | Missense | Coding | Exon 4 | Altered receptor and heparin binding; reduced VLDL lipolysis. |
Rall et al., 1983; Smit et al., 1990 |
| L162_K164del (L144_K146del)
(Tokyo/Maebashi, ApoE Tokyo, ApoE Maebashi, L141_K143del, R142_L144del, K143_R145del) |
Blood Lipids/Lipoproteins, Kidney Disorder: Lipoprotein Glomerulopathy | Deletion | Deletion | Deletion | Coding | Exon 4 | Unknown, but expected to alter receptor binding and heparin binding. |
Konishi et al., 1999; Ogawa et al., 2000; Maruyama et al., 1997 |
| 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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