Mutations Position Table

PSEN1 Y115 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
Y115H
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Increased Aβ42/Aβ40, Aβ42/Aβ38, and Aβ43/Aβ40 ratios, while leaving Aβ38/Aβ40 unchanged, in iPSCs. Reduced production of Aβ40 and Aβ38 in vitro; decreased intracelluar Aβ40. Suppressed Aβ production by wild-type PSEN1.  

 

rs63749962
Coding
Exon 5
Point, Missense
TAT to CAT
0 Campion et al., 1995
Y115D
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Unknown.

rs63749962
Coding
Exon 5
Point, Missense
TAT to GAT
0
Y115C
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Increased Aβ42:Aβ40 ratio in cells and in vitro. In cells, increased Aβ42 secretion; in vitro, decreased Aβ42, and especially Aβ40, production. Also, disruption of lysosome function and autophagy via accumulation of APP β-C-terminal fragments.

rs63750450
Coding
Exon 5
Point, Missense
TAT to TGT
0 Cruts et al., 1998

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