Mutations Position Table
PSEN1 G217 Mutations
| 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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