Mutations Position Table
PSEN1 S365 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| S365Y |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 10 | Unknown. |
Unknown. In silico algorithms yielded conflicting results, with integrative CADD score (>20) suggesting damaging effects. |
Rogaeva et al., 2001 |
| S365A |
AD : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon10 | Unknown |
In vitro production of Aβ38, Aβ40, Aβ42, and Aβ43 similar to wildtype in one study; in another Aβ40 and Aβ42 production moderately increased, with Aβ42/Aβ40 ratio unchanged. Another study reported the phosphorylation status of this site appears to modulate a PSEN1 calcium-triggered conformational change linked to increased Aβ42/Aβ40. |
Clarimón et al., 2008; Guerreiro et al., 2010 |
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