Mutations Position Table

PSEN2 E126 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
E126fs
AD : Not Classified Insertion Insertion | Frame Shift Coding Exon 6

Unknown; neuroimaging showed hippocampal and parahippocampal atrophy.

Reduced Aβ42 and Aβ40 secretion, as well as the Aβ42/Aβ40 ratio in a cellular assay.

El Kadmiri et al., 2014
E126K
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 6

Unknown.

Increased Aβ42/Aβ40 ratio and decreased Aβ37/Aβ42 ratio in cells. 

Müller et al., 2014

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