Mutations Position Table

PSEN1 R352 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
R352C
Alzheimer's Disease Alzheimer's Disease : Likely Benign

Unknown; imaging showed cerebral global atrophy.

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


Coding
Exon 10
Point, Missense
CGC to TGC
0 Jiang et al., 2015
R352dup
Frontotemporal Dementia Frontotemporal Dementia : Not Classified

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.

rs63750762
Coding
Exon 10
Insertion
CGC.TCT to CGC.CGC.TCT
0 Rogaeva et al., 2001;
Tang-Wai et al., 2002;
Amtul et al., 2002

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