Mutations Position Table
PSEN1 A260 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| A260G |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown, but CSF bimoarkers were consistent with AD in two patients and MRI revealed mild cortical and hippocampal atrophy in one patient and signs of CAA in two patients. |
Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. |
Ryman et al., 2014; Piaceri et al., 2020 |
| A260V |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Neuropathology consistent with AD. Also, diffuse Lewy body pathology, perivascular amyloid deposits and Pick-like intra-neuronal inclusions in the dentate gyrus. |
Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. Reduced production of Aβ40 and Aβ42, disrupted APP intracellular distribution. |
Rogaev et al., 1995; Ikeda et al., 1996 |
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