Mutations Position Table

PSEN1 T291 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
T291A
Alzheimer's Disease Alzheimer's Disease : Not Classified, Parkinsonism : Not Classified

Unknown, patient with 2 PSEN1 mutations (A434T, T291A) had AD pathology with cotton wool plaques, diffuse deposits, and severe amyloid angiopathy

Unknown, in silico analyses yielded conflicting results.


Coding
Exon 9
Point, Missense
ACA to GCA
0 Ryan et al., 2016
T291P
Alzheimer's Disease, Spastic Paraparesis Alzheimer's Disease : Likely Pathogenic

Unknown; MRI showed marked diffuse atrophy and a signal in the right temporal lobe, compatible with previous bleeding.

In cells, this mutation increased both Aβ40 and Aβ42, causing an overall increase in the Aβ42/Aβ40 ratio. However, in an in vitro assay, it dramatically decreased Aβ42 and abolished Aβ40 production. Also affects exon 9 splicing.

rs63750298
Coding
Exon 9
Point, Missense
ACA to CCA
0 Dumanchin et al., 2006

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