Mutations Position Table
APOE A184 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| A184D (A166D)
|
Blood Lipids/Lipoproteins | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but predicted deleterious in silico (PHRED-scaled CADD = 23). |
Kim et al., 2020 |
| A184fs (A166fs)
(166delG) |
Diabetes Mellitus | Deletion | Deletion | Frame Shift | Coding | Exon 4 | Unknown, but reduced plasma ApoE levels. |
Stephens et al., 2005 |
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