Mutations Position Table

PSEN1 Y159 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
Y159C
Alzheimer's Disease, Parkinsonism Alzheimer's Disease : Not Classified

Unknown, but in one case, MRI revealed diffuse parietal and hippocampal atrophy, and FDG-PET showed severe hypometabolism in bilateral frontoparieto-temporal cortex.

Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerated (SIFT). Cryo-EM suggests structural role in PSEN1-APP interaction. CADD score = 28.3.

rs778630379
Coding
Exon 5
Point, Missense
TAT to TGT
0 Kim et al., 2020
Y159F
Alzheimer's Disease Alzheimer's Disease : Not Classified

Unknown, but CSF biomarkers suggestive of AD.

Unknown, but multiple in silico algorithms predicted a damaging effect.

rs778630379
Coding
Exon 5
Point, Missense
TAT to TTT
0 Kerchner and , 2012

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