Mutations Position Table
PSEN1 D40 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| D40del (delACG) |
Alzheimer's Disease | Alzheimer's Disease : Unclear Pathogenicity | Unknown. |
Decreased Aβ42 production and undetectable Aβ40 production in vitro. Does not cause a frame-shift. |
rs759538127 |
Coding Exon 4 |
Deletion ACG to --- |
0 | Nicolas et al., 2015 |
| D40del (delGAC) |
Alzheimer's Disease, Frontotemporal Dementia | Alzheimer's Disease : Pathogenic | 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. |
Decreased Aβ42 and Aβ43 in CSF in one carrier. In cells, increased Aβ42 secretion with no change in Aβ40. In vitro, abrogated Aβ40 production and decreased Aβ42 production. |
rs759538127 |
Coding Exon 4 |
Deletion GAC to --- |
0 | Nygaard et al., 2014 |
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