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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