Mutations Position Table
PSEN1 Y256 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| Y256S |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Neuropathology consistent with AD in two cases; severe, widespread pathology, including cotton-wool plaques. |
Increased Aβ40 and Aβ42 in frontal cortex of one case. In cells, increased Aβ42 and Aβ43. In vitro, decreased production of Aβ42 and Aβ40, increased Aβ42/Aβ40 ratio. |
Miklossy et al., 2003 |
| Y256N |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but MRI revealed temporal lobe and hippocampal atrophy in one case. |
Unknown, but in silico algorithms predict the mutation is deleterious. |
Li et al., 2019 |
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