Mutations Position Table
APOE G145 Mutations
| Mutation | Clinical Phenotype Studied |
DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| G145InsEVQAMLG (G127InsEVQAMLG)
(Leiden) |
Hyperlipoproteinemia Type III | Duplication | Duplication | Duplication | Coding | Exon 4 | Reduced receptor binding, heparin binding, HSPG-LPL binding, and lipolysis; increased preference for VLDL. |
Wardell et al., 1989; van den Maagdenberg et al., 1989; Havekes et al., 1986 |
| G145D (G127D)
(ApoE1 Bethesda) |
Alzheimer's Disease, Multiple Conditions | Substitution | Substitution | Missense | Coding | Exon 4 | Decreased heparin binding and altered b-VLDL binding (LRP receptor), with no apparent effect on LDL binding. |
Weisgraber et al., 1984; Gregg et al., 1983 |
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