Mutations Position Table
PSEN1 A275 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| A275V |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Neuropathology consistent with AD. |
Increased the Aβ42/Aβ40 ratio and decreased the Aβ (37 + 38 + 40) / (42 + 43) ratio. |
Luedecke et al., 2014 |
| A275S |
Dementia : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown, but in one case, MRI showed mild generalized atrophy sparing the hippocampus, and florbetaben-PET showed cortical amyloid accumulation. Dopamine transporter status was normal. |
Unknown, but in silico algorithms predicted damaging (CADD score >20). |
Joshi et al., 2021 |
| A275T |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Unkown but brain MRI of one carrier showed hippocampal and temporoparietal atrophy and SPECT revealed hypoperfusion of the right posterior parietal cortex. |
Aβ42/Aβ40 ratio was unchanged, but production of both peptides increased in cell-based assay. |
Takada et al., 2022 |
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