Mutations Position Table
PSEN1 F237 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| F237C |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but PET/SPECT imaging showed parieto-temporo-frontal hypoperfusion. |
Unknown, but cryo-EM suggests F237 helps form a hydrophobic pocket in the substrate-binding pore. |
Lanoiselée et al., 2017 |
| F237I |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but in proband, PET and SPECT revealed hypometabolism and hypoperfusion in bilateral temporoparietal areas, including primary and sensory motor cortices. |
Decreased Aβ37/Aβ42 ratio; Aβ42/Aβ40 ratio similar to wildtype. Decreased levels of Aβ43, Aβ42, Aβ40. |
Sodeyama et al., 2001 |
| F237L |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but in one carrier CSF AD biomarkers were consistent with AD. |
Decreased Aβ37/Aβ42 ratio; Aβ42/Aβ40 ratio similar to wildtype. Decreased levels of Aβ43, Aβ42, Aβ40. |
Janssen et al., 2003 |
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