Mutations Position Table
PSEN1 R269 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| R269H |
Alzheimer's Disease, Cerebral Amyloid Angiopathy, Myoclonus | AD : Likely Pathogenic | 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 Aβ40, Aβ42, Aβ43, sAPPα, sAPPβ levels, and Aβ42/Aβ40 ratio in CSF of one carrier. | rs63750900 |
Coding | Exon 8 | Point, Missense CGT to CAT |
0 | Gómez-Isla et al., 1997 |
| R269G |
Alzheimer's Disease, Myoclonus | AD : Likely Pathogenic | 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. | rs63751019 |
Coding | Exon 8 | Point, Missense CGT to GGT |
0 | Perez-Tur et al., 1996 |
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