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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