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 ratio; increased Aβ42; decreased intracelluar Aβ40

rs63749962
Coding
Exon 5
Point, Missense
TAT to CAT
0 Campion 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.

HEK-293 cells transfected with mutant PSEN1 secreted significantly more Aβ42 (approximately 5.4-fold) than cells expressing wild-type PSEN1. The Aβ42:Aβ40 ratio was also increased.

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