Mutations Position Table
APOE A23 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| A23A (A5A)
|
Blood Lipids/Lipoproteins, Hyperlipoproteinemia Type IIb | Substitution | Substitution | Silent | Coding | Exon 3 | Unknown, but predicted benign in silico (PHRED-scaled 3.7). |
Radwan et al., 2014 |
| A23V (A5V)
|
Alzheimer's Disease, Blood Lipids/Lipoproteins, Hyperlipoproteinemia Type IIa | Substitution | Substitution | Missense | Coding | Exon 3 | Decreased plasma ApoE levels. |
Rasmussen et al., 2020 |
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