Mutations Position Table
APP A692 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 |
| A692G (Flemish) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 17 | Severe CAA and AD pathology. Numerous senile plaques; Dystrophic neurites; Congophilic angiopathy; Hemorrhagic infarction. |
Increased secreted Aβ42 and Aβ40 in CHO, HEK-293, and H4 cells. Increased β-CTF which correlated with endosomal dysfunction. Increased Aβ1-19 and Aβ5-40. Altered oligomerization, reduced aggregation. |
Hendriks et al., 1992 |
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