Mutations Position Table
APOE R176 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R176P (R158P)
(Osaka/Kurashiki, ApoE Osaka/Kurashiki, ApoE2 Kurashiki, ApoE Osaka) |
Blood Lipids/Lipoproteins, Cardiovascular Disease, Kidney Disorder: Lipoprotein Glomerulopathy | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but structural analyses predicted changes affecting lipid and receptor binding. |
Tokura et al., 2011; Mitani et al., 2011 |
| R176C (R158C)
(ApoE2) |
Alzheimer's Disease, Multiple Conditions | Allele | Allele | Allele | Coding | Exon 4 | Protective against AD risk. Effects on both Aβ (direct) and tau (possibly indirect) pathologies. Also implicated in multiple neuronal and non-neuronal functions. |
Weisgraber et al., 1981; Zannis and Breslow, 1981 |
| [R176C];[C130R] ([R158C;C112R])
(ApoE2/4, ApoE4/2) |
Alzheimer's Disease, Multiple Conditions | Coding | Exon 4 | When present in the same host, APOE2 appears to partially mitigate APOE4's harmful effects. |
Farrer et al., 1997 | ||
| [C130R;R176C] ([C112R;R158C])
(ApoE3r, ApoE1y) |
Blood Lipids/Lipoproteins, Motor Neuron Disease | Coding | Exon 4 | Unknown. |
Persico et al., 2004 |
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