Mutations Position Table

PSEN1 Y256 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
Y256N
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, but MRI revealed temporal lobe and hippocampal atrophy in one case.

Unknown, but in silico algorithms predict the mutation is deleterious.


Coding
Exon 7
Point, Missense
TAT to AAT
0 Li et al., 2019
Y256S
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD in two cases; severe, widespread pathology, including cotton-wool plaques.

Increased Aβ40 and Aβ42 in frontal cortex of one case. In vitro, decreased production of Aβ42, and particularly Aβ40; increased Aβ42/Aβ40 ratio.

rs63751320
Coding
Exon 7
Point, Missense
TAT to TCT
0 Miklossy et al., 2003

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