Mutations Position Table
APP L723 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L723P (Australian) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 17 | Unknown. |
Increased Aβ48 levels, reduced Aβ48 trimming. Decreased ε-cleavage; Aβ49 production nearly abrogated. |
Kwok et al., 2000 |
| L723R |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 17 | Unknown. |
Increased Aβ42 and decreased Aβ40 levels resulting in an increased Aβ42/Aβ40 ratio in cells. |
Liu et al., 2025; Marsh et al., 2025 |
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