Mutations Position Table
APP P620 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| P620A |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 14 | Unknown. |
Increased Aβ42 and the Aβ42/Aβ40 ratio in cells. |
Nicolas et al., 2015 |
| P620L |
AD : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon 14 | One reported carrier of the variant had autopsy-confirmed AD. |
Increased Aβ40 and Aβ42 secretion in cells, without significantly altering the Aβ42/Aβ40 ratio in cells. |
Sassi et al., 2014 |
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