Mutations Position Table
APOE R154 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R154H (R136H)
|
Hyperlipoproteinemia Type III | Substitution | Substitution | Missense | Coding | Exon 4 | Moderately reduced receptor and heparin binding. |
Minnich et al., 1995 |
| R154fs (R136fs)
(ApoE Australia, ApoE0) |
Hyperlipoproteinemia Type III | Deletion | Deletion | Frame Shift | Coding | Exon 4 | Absence of ApoE, at least in VLDL lipoprotein. |
Tate et al., 2001 |
| R154C (R136C)
|
Alzheimer's Disease, Multiple Conditions | Substitution | Substitution | Missense | Coding | Exon 4 | Reduced receptor binding. |
Walden et al., 1994 |
| R154S (R136S)
(Christchurch, ApoE2-Christchurch, APOE3 Christchurch) |
Alzheimer's Disease, Multiple Conditions | Substitution | Substitution | Missense | Coding | Exon 4 | Reduced receptor and HSPG binding; reduced amyloid-β aggregation, tau phosphoryation. In mice, reduced Aβ-induced tau seeding and spreading possibly via microglia. In APOE4 context, reduced tauopathy, neurodegeneration, and neuroinflammation in mice and iPSCs. |
Wardell et al., 1987; Emi et al., 1988 |
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