Mutations Position Table

PSEN1 G217 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
G217D
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 7

Cotton wool plaques in the cortex, caudate nucleus, putamen, claustrum, thalamus, substantia innominate, and colliculi.

Decreased Aβ37/Aβ42 ratio; increased Aβ42/Aβ40. Increased Aβ43 and decreased Aβ37 production.

Miravalle et al., 2002;
Takao et al., 2002
G217R
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 7

Cotton wool plaques.

Increased Aβ42/Aβ40 in two cell-based assays; decreased Aβ37/Aβ42 in iPSC-derived neurons. 

Norton et al., 2009

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