Mutations Position Table
PSEN1 R269 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| R269H |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Neuropathology consistent with Alzheimer's disease; a high burden of Aβ and neurofibrillary tangles in cortical areas. Prominent microbleeds in the cerebellum, parieto-occipital region, and temporal lobe revealed by MRI in one patient. MRI in two cases showed white matter alterations. |
Decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio in cells; decreased γ-secretase activity (53% of wildtype). |
Gómez-Isla et al., 1997 |
| R269G |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown, but in one patient, MRI showed mild, non-specific cortical atrophy and EEG revealed a moderate, bilateral excess of slow wave activity. SPECT imaging showed non-specific, moderate hypoperfusion of the posterior parietal cortex.
|
Decreased Aβ40 and Aβ42 production; increased Aβ42/Aβ40 ratio. |
Perez-Tur et al., 1996 |
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