Mutations Position Table
PSEN1 Y115 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| Y115C |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Neuropathology consistent with AD. |
Increased Aβ42:Aβ40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. In cells, increased Aβ42 secretion; in vitro, decreased Aβ42, and especially Aβ40, production. Also, disruption of lysosome function and autophagy via accumulation of APP β-C-terminal fragments. |
Cruts et al., 1998 |
| Y115H |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Neuropathology consistent with AD. |
Increased Aβ42/Aβ40, decreased Aβ (37 + 38 + 40) / (42 + 43) and Aβ37/Aβ42 in cells and in vitro, indicating reduced γ-processivity. Suppressed Aβ production by wild-type PSEN1.
|
Campion et al., 1995 |
| Y115D |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 5 | Neuropathology consistent with AD. |
Increased Aβ42/40 ratio and decreased Aβ37/40, Aβ37/42, and Aβ38/42 ratios in cells, indicating reduced γ-processivity. It also reduced total Aβ secretion. |
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