Mutations Position Table
PSEN1 F283 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| F283L (T>G) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Neuropathology consistent with AD; absence of CBD pathology (2 cases in 1 family). MRI showed severe parietal, perirolandic, and temporal atrophy with relative sparing of frontal and ipsilateral hippocampal regions. |
Unknown, but predicted to have a damaging effect according to SIFT, Polyphen, and Mutation Taster. |
Scahill et al., 2013; Ryan et al., 2016 |
| F283L (T>C) |
AD : Not Classified | Substitution | Missense | Coding | Exon 8 | Unknown. |
Unknown, but predicted damaging in silico (PHRED-scaled CADD = 24.8). |
Liu et al., 2025 |
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