Mutations Position Table

PSEN1 A434 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
A434C
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Numerous diffuse plaques and neuritic plaques with dense amyloid cores throughout the neocortex; Abundant neurofibrillary tangles and Hirano bodies; Moderate cell loss and gliosis in the hippocampus, amygdala, and nucleus basalis.

Increased Aβ42 and decreased Aβ40 production in vitro, resulting in an increased Aβ42/Aβ40 ratio.

rs63750528, rs63750341
Coding
Exon 12
Point, Double
GCT to TGT
0 Devi et al., 2000
A434T
Parkinsonism, Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown; predicted damaging in silico.


Coding
Exon 12
Point, Missense
GCT to ACT
0 Jiao et al., 2014

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