Mutations Position Table
PSEN1 F177 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| F177S |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown, but in one carrier, PET revealed amyloid pathology in the cortex and widespread tau pathology and hypometabolism. MRI showed whole-brain atrophy. |
Increased Aβ42/Aβ40 ratio and decreased Aβ37/Aβ42 ratio in cultured cells. |
Rogaeva et al., 2001 |
| F177L |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown |
Increased Aβ42 production and Aβ42/Aβ40 ratio in vitro. Little impact on total cleavage activity of γ-secretase. |
Rogaeva et al., 2001 |
| F177V |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown, but MRI showed global brain atrophy, especially in the temporal region and hippocampus in one patient. |
Increased Aβ42 and Aβ42/Aβ40 in transfected cells. |
Gao et al., 2019 |
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