Mutations Position Table
PSEN1 C263 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| C263W |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown, but in one case, CSF biomarkers were consistent with AD and brain imaging revealed cortical atrophy in three cases. |
Unknown, but 3D modeling suggested conformational effects and the PHRED-scaled CADD score was above 20 suggesting a deleterious effect. |
Tortelli et al., 2021 |
| C263F |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown. AD-like CSF levels of Aβ40, Aβ42, Aβ43, tau, and phospho-tau in 3 of 4 carriers. |
Increased Aβ43 and the Aβ42/Aβ40 ratio; decreased Aβ38, Aβ40, and Aβ42. |
Janssen et al., 2003 |
| C263R |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Neuropathology consistent with AD. |
Decreased Aβ40 and Aβ42 production and increased Aβ42/Aβ40 ratio in vitro. |
Wasco et al., 1995 |
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