Mutations Position Table
PSEN1 A434 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| A434V |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 12 | Unknown, but predicted deleterious (PHRED-scaled CADD score = 28.7) |
Roveta et al., 2023 | |
| A434C |
AD : Pathogenic | Deletion-Insertion | Deletion-Insertion | Missense | Coding | Exon 12 | 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. |
Devi et al., 2000 |
| A434T |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 12 | Unknown. |
Unknown; predicted damaging in silico. |
Jiao et al., 2014 |
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