Mutations Position Table
PSEN1 T291 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| T291A |
AD : Benign, Parkinsonism : Not Classified | Substitution | Substitution | Missense | Coding | Exon 9 | 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 predicted a damaging effect (PHRED-scaled CADD = 22.8). |
Ryan et al., 2016 |
| T291P |
AD : Likely Pathogenic | Substitution | Splicing Alteration | Missense; Deletion | Coding | Exon 9 | 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. |
Dumanchin et al., 2006 |
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