Mutations Position Table

PSEN1 Y389 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
Y389H
Parkinsonism, Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, but in two cases, amyloid-PET was positive. MRI revealed mild, diffuse cortical atrophy in one case, and severe frontotemporal atrophy in another. FDG-PET showed bilateral hypometabolism in parietal and temporal cortices in one case. 

Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerable/damaging (SIFT). CADD score = 26.9.


Coding
Exon 11
Point, Missense
TAC to CAC
0 Park et al., 2020;
Kim et al., 2020
Y389S
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, but one case had Aβ accumulation (PiB-PET+), with mild, diffuse cortical atrophy (MRI), and bilateral hypometabolism in the parieto-temporal cortex (FDG-PET).

Unknown, but predicted probably damaging by in silico algorithms Polyphen2 and SIFT. CADD score = 26.8.


Coding
Exon 11
Point, Missense
TAC to TCC
0 Kim et al., 2020

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