Mutations Position Table

PSEN1 R352 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
R352dup
FTD : Not Classified Duplication Duplication | Duplication Coding Exon 10

Unknown, single case with confirmed mutation had FTD symptoms and pathology, but was subsequently found to also have a progranulin mutation

In-frame insertion of 3 nucleotides in exon 10 resulting in insertion of an arginine between amino acids R352 and S353. Aβ CSF and plasma levels in proband are roughly normal. In cultured cells, expression of the mutant increased the Aβ42:Aβ40 ratio, but markedly reduced the levels of both secreted Aβ40 and Aβ42. In vitro, production of Aβ42 was markedly decreased and production of Aβ40 was abolished.

Rogaeva et al., 2001;
Tang-Wai et al., 2002;
Amtul et al., 2002
R352C
AD : Likely Benign Substitution Substitution | Missense Coding Exon 10

Unknown; imaging showed cerebral global atrophy.

Aβ42/Aβ40 ratio similar to wildtype as assessed in cellular and in vitro assays.

Jiang et al., 2015

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