Mutations Position Table
APOE C130 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| [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 (C112R)
(ApoE4) |
Alzheimer's Disease, Multiple Conditions | Allele | Allele | Allele | Coding | Exon 4 | Strongest known risk factor for AD. Implicated in Aβ and tau pathologies, as well as in multiple other neuronal and non-neuronal functions. |
Weisgraber et al., 1981; Zannis and Breslow, 1981 |
| [C130R;R176C] ([C112R;R158C])
(ApoE3r, ApoE1y) |
Blood Lipids/Lipoproteins, Motor Neuron Disease | Coding | Exon 4 | Unknown. |
Persico et al., 2004 |
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