Mutations Position Table
PSEN1 p264 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| P264L |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Variable: Neuropathology frequently consistent with a diagnosis of AD, but also significant white-matter abnormalities and severe cerebral amyloid angiopathy with numerous small cortical infarcts. Abundant cotton-wool plaques composed of Aβ42 have also been reported. |
Increased Aβ42/Aβ40 and decreased Aβ38/Aβ42 ratios; increased Aβ42, and decreased Aβ40 and Aβ38 production; Deposition of PSEN-1 in the endoplasmic reticulum; impaired mitochondrial activity and ATP production. |
Campion et al., 1995; Wasco et al., 1995 |
| P264S |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown. |
Aβ42/Aβ40 ratio increased, but production of both peptides decreased, in a cell-based assay. |
Takada et al., 2022 |
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