Mutations Position Table
APOE E114 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| E114fs (E96fs)
(ApoE3 Groningen) |
Hyperlipoproteinemia Type III | Insertion | Insertion | Frame Shift | Coding | Exon 4 | Predicted to result in a truncated ApoE species or in elimination of its production. |
Dijck-Brouwer et al., 2005 |
| E114K (E96K)
|
Alzheimer's Disease, Blood Lipids/Lipoproteins | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but carriers had reduced ApoE levels in plasma. |
Rasmussen et al., 2020 |
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