Mutations Position Table
PSEN1 P88 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| P88H |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown. |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Lanoiselée et al., 2017 |
| P88L |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but CSF biomarkers were consistent with AD in 2 carriers. MRI showed cortical atrophy; FDG-PET revealed hypometabolism in putamina and temporo-parietal regions in one case, and in fronto-parietal areas, including the motor cortex, in another. |
Increased ratio of Aβ42,43/Aβ40 and generation of Aβ45 and Aβ46. |
Liu et al., 2017 |
| P88R |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown, but MRI in one case showed temporal and parietal atrophy with white matter hyperintensities, and levels of Aβ42 and the Aβ42/Aβ40 ratio were reduced in CSF. |
Unknown, but in silico algorithms predicted damaging (PHRED-scaled CADD > 20). |
Thomas et al., 2022 |
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