Mutations Position Table
APP T719 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| T719P |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 17 | Unknown; atrophy of the temporal lobes by MRI. |
Increased levels of membrane-anchored Aβ49 and Aβ46; increase in the Aβ49 → Aβ46 → Aβ43 → Aβ40 pathway over the Aβ48 → Aβ45 → Aβ42 → Aβ38 pathway. Favors ε-cleavage at Aβ49 over Aβ48. Stalls γ-secretase-APP complex which appears to be toxic per se.
|
Ghidoni et al., 2009 |
| T719N |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 17 | Unknown. |
In a heterologous expression system, the T719N mutation led to increased levels of Aβ42 and an elevated Aβ42:Aβ40 ratio, compared with wild-type APP. |
Hsu et al., 2018 |
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