Mutations Position Table
PSEN1 F176 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| F176L |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 6 | Neuropathology consistent with AD, notably abundant amyloid plaques and neurofibrillary tangles in the cortex. In fact, the neuropathology in this individual (Auguste D.) defined these structures as hallmarks of AD. |
Variable results, but a comprehensive survey of Aβ peptides in a cell-based assay suggests it is damaging as reflected by its reduction of the Aβ37/Aβ42 ratio. |
Müller et al., 2013 |
| F176V |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 6 | Atrophy of the hippocampus, parahippocampal cortex, and head of the caudate nucleus. Aβ plaques, tau-immunopositive neurons, and neuropil threads throughout the cerebral cortex. Myelinated fiber loss in the hemispheric white matter. Also, amyloid angiopathy and parenchymal Aβ deposition in the cerebellum. |
Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. |
Ghetti et al., 2014 |
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