Mutations Position Table
APP D694 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| F690_V695del (Uppsala deletion, APP Δ690-695, APP delta690–695, Uppsala APP deletion) |
AD : Pathogenic | Deletion | Deletion | Deletion | Coding | Exon 17 | One reported carrier of this variant had autopsy-confirmed AD. |
Appears to largely eliminate non-amyloidogenic processing of APP and leads to the generation of rapidly aggregating Aβ peptides lacking amino acids 19-24. In mice, Aβ fibrils barely evoke a glial response. |
Pagnon de la Vega et al., 2021 |
| D694N (Iowa) |
CAA : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 17 | Extensive CAA with cortical, particularly occipital, calcifications and AD pathology; hemorrhagic lesions. |
Increased fibrillogenesis of the Aβ peptide; greater Aβ-induced toxicity; decreased α-secretase cleavage, increased Aβ5-29, Aβ5-33, Aβ1-19, Aβ1-33. |
Grabowski et al., 2001 |
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