Mutations Position Table
PSEN1 R352 Mutations
| 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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