Mutations Position Table
PSEN1 F388 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| F388L |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown. |
Increased Aβ42 and Aβ42/Aβ40 ratio. |
Zhan et al., 2017 |
| F388S |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown, but MRI revealed brainstem atrophy, and DTI showed corticospinal tract abnormalities typical of spastic paraparesis. |
Unknown, but cryo-EM data and in silico algorithms suggest it is damaging. |
Ringman et al., |
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