Mutations Position Table

PSEN1 P88 Mutations

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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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