Mutations Position Table
PSEN1 F386 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| F386L |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown. |
Unknown, but predicted to be pathogenic by multiple in silico analyses. |
Yagi et al., 2014 |
| F386S |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown |
Decreased Aβ37/Aβ42 ratio and dramatically increased Aβ43 in cells. Increased Aβ42/Aβ40 ratio in 3 assays. |
Raux et al., 2005 |
| F386I |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown; MRI showed atrophy of hippocampus. |
Increased Aβ42/Aβ40 and Aβ43; decreased Aβ37/Aβ42 in cells. |
Shea et al., 2017 |
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