Mutations Position Table
APOE R163 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R163H (R145H)
(ApoE Kochi) |
Blood Lipids/Lipoproteins | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 23). |
Suehiro et al., 1990 |
| R163P (R145P)
(Sendai) |
Kidney Disorder: Lipoprotein Glomerulopathy | Substitution | Substitution | Missense | Coding | Exon 4 | Reduced receptor and heparin binding in vitro. In mice, caused LPG-like renal aggregates, altered lipid/lipoprotein profile in blood, and altered macrophage function. |
Oikawa et al., 1991; Oikawa et al., 1997 |
| R163C (R145C)
(ApoE4 Philadelphia, ApoE Qatar, APOE ε3[R145C]) |
Alzheimer's Disease, Multiple Conditions | Substitution | Substitution | Missense | Coding | Exon 4 | Reduced heparin binding and moderately reduced receptor binding. |
Rall et al., 1982 |
| 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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