Mutations Position Table

PSEN1 F237 Mutations

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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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