Mutations Position Table
PSEN1 E273 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| E273A |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown |
Increased Aβ43 and decreased Aβ38 in cells; increased Aβ42 and Aβ42/Aβ40 ratio in vitro; disrupted calcium flow in ER. |
Kamimura et al., 1998 |
| E273G |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown. |
Unknown, but multiple in silico algorithms predicted it is damaging. |
Wallon et al., 2012 |
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