Mutations Position Table

PSEN1 Q222 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
Q222H
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 7

Neuropathology consistent with AD in one case, CSF biomarkers consistent with AD in another case.

Increased Aβ42/Aβ40, decreased Aβ37/Aβ42, and increased Aβ43 levels in cultured cells.

Miklossy et al., 2003
Q222P
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 7

Unknown

Unknown, but predicted to be probably damaging by Polyphen and deleterious by Provean. Conserved between species and PSENs; other pathogenic mutations at this site.

Scahill et al., 2013;
Ryan et al., 2016
Q222R
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 7

Unknown

Increased Aβ40 and Aβ42 production, as well as the Aβ42/Aβ40 ratio in vitro.

Rogaeva et al., 2001

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