Mutations Position Table
PSEN1 T274 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| T274K |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown, but MRI imaging revealed alterations consistent with AD in one case. |
Unknown, but in silico algorithms predicted the substitution is damaging, disrupting PSEN1 structure and function. |
|
| T274R |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown |
In vitro, Aβ40 and Aβ42 production was undetectable. |
Rogaeva et al., 2001 |
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