Mutations Position Table
APOE E230 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| E230K (E212K)
(ApoE5) |
Blood Lipids/Lipoproteins | Substitution | Substitution | Missense | Coding | Exon 4 | Increased heparin binding, while decreasing cellular internalization and degradation in cultured cells. |
Feussner et al., 1996 |
| A227_E230del (A209_E212del)
|
Blood Lipids/Lipoproteins, Cardiovascular Disease, Hyperlipoproteinemia Type III | Deletion | Deletion | Frame Shift | Coding | Exon 4 | Predicted to cause a frameshift introducing a stop codon at amino acid 247. In homozygous form, resulted in near elimination of ApoE protein. |
Feussner et al., 1996 |
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