Mutations Position Table
PSEN1 V103 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| V103_S104delinsG |
AD : Pathogenic | Deletion | Deletion | Deletion-Insertion | Coding | Exon 4 | Unknown, but in one case, MRI showed global atrophy, and FDG-PET showed hypometabolism in the posterior cingulate cortex, precuneus, and temporoparietal cortices. |
Increased Aβ42/40 ratio and decreased Aβ42 and Aβ40 levels in cell-based assay. |
Takada et al., 2022 |
| V103G |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 4 | Unknown |
Unknown, but predicted structural effect and predicted damaging by in silico algorithms (PolyPhen, SIFT, MutationTaster, CADD). |
Gao et al., 2019 |
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