Mutations Position Table

PSEN1 T147 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
T147I
AD : Pathogenic Substitution Substitution | Missense Coding Exon 5

Unknown.

Unknown; predicted probably damaging in silico.

Campion et al., 1999
T147P
AD : Not Classified Substitution Substitution | Missense Coding Exon 5

Unknown; neuroimaging showed widespread cortical atrophy, as well as atrophy in the medial temporal lobes, with less severe cerebellar atrophy.

 

In cells, decreased Aβ37/Aβ42 ratio, although Aβ42/Aβ40 was similar to controls.

Testi et al., 2014

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