Mutations Position Table
PSEN1 V97 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| V97L |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown; MRI from two mutation carriers showed enlarged lateral ventricles and atrophy of the cerebral cortex, especially the temporal lobes. |
MIxed experimental results, but a detailed analysis of Aβ peptide production in cells indicated a deleterious effect with a decrease in the Aβ37/Aβ42 ratio. Alterations of other cellular functions were also reported.
|
Jia et al., 2005 |
| V97M |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown. |
Increased the Aβ42/Aβ40 ratio, but decreased production of both Aβ40 and Aβ42 in cells. |
Liu et al., 2025; Marsh et al., 2025 |
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