Mutations Position Table
PSEN1 D40 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| D40del (delGAC) |
AD : Uncertain Significance | Deletion | Deletion | Deletion | Coding | Exon 4 | Unknown; MRI showed progressive cortical atrophy involving the lateral frontal lobes most prominently. Medial temporal lobe structures were also affected. Imaging by PET with florbetapir showed fibrillary Aβ deposits particularly in the frontal lobes. |
Mixed results: two assays showed an increase in the Aβ42/Aβ40 ratio and one showed no effect on either the Aβ42/Aβ40 nor the Aβ37/Aβ42 ratios. Results were inconsistent regarding production levels of each peptide. |
Nygaard et al., 2014 |
| D40del (delACG) |
AD : Uncertain Significance | Deletion | Deletion | Deletion | Coding | Exon 4 | Unknown. |
Decreased Aβ42 production and undetectable Aβ40 production in vitro. Does not cause a frame-shift. |
Nicolas et al., 2015 |
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