Mutations Position Table
PSEN1 M84 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| M84T |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 4 | Neuropathology consistent with AD. Severe CAA, no Lewy bodies observed. |
Unknown. In silico predicted deleterious (CADD-PHRED score = 24). |
Lanoiselée et al., 2017 |
| M84V |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | Neuropathology consistent with AD in 2 cases. MRI showed cortical and cerebellar atrophy in 2 cases; frontal and temporal lobe atrophy in a third case. |
Increased Aβ42 and Aβ42/Aβ40 ratio in cells. |
Hooli et al., 2014 |
| 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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