Mutations Position Table
PSEN2 E126 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| E126fs |
AD : Not Classified | Insertion | Insertion | Frame Shift | Coding | Exon 6 | Unknown; neuroimaging showed hippocampal and parahippocampal atrophy. |
Reduced Aβ42 and Aβ40 secretion, as well as the Aβ42/Aβ40 ratio in a cellular assay. |
El Kadmiri et al., 2014 |
| E126K |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown. |
Increased Aβ42/Aβ40 ratio and decreased Aβ37/Aβ42 ratio in cells. |
Müller et al., 2014 |
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