Mutations Position Table
APOE A170 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| A170D (A152D)
(ApoE Las Vegas) |
Kidney Disorder: Lipoprotein Glomerulopathy, Blood Lipids/Lipoproteins | Substitution | Substitution | Missense | Coding | Exon 4 | Aggregation-prone. Reduced helical content, stability, predicted to induce misfolding. |
Bomback et al., 2010 |
| A170P (A152P)
|
Substitution | Substitution | Missense | Coding | Exon 4 | Reduced receptor binding. |
McLean et al., 1984 |
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