Mutations Position Table
PSEN1 I83 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| I83T |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown; MRI showed bilateral atrophy, especially in the parietal and temporal lobes in one case, and frontal and temporal atrophy in another. |
Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42. |
Achouri-Rassas et al., 2015 |
| I83_M84del (DelIM, ΔI83/M84, ΔI83/ΔM84) |
AD : Not Classified | Deletion | Deletion | Deletion | Coding | Exon 4 | Accumulation of noncongophilic, Aβ-positive, cotton-wool plaques in brain parenchyma. Widespread cerebral amyloid angiopathy, neurofibrillary tangles, and neuropil threads. |
Hexanucleotide deletion resulting in deletion of two amino acids (I and M). In cells, increased Aβ42/Aβ40 ratio; decreased Aβ37/Aβ42 ratio. Increased Aβ43. |
Houlden et al., 2000; Steiner et al., 2001 |
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