Mutations Position Table
PSEN1 H131 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| H131Q |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown |
Unknown. Only 1 of 5 in silico algorithms predicted damaging. |
Jia et al., 2020 |
| H131R |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown, but PiB-PET showed extensive cortical and striatal amyloid deposition in one patient. Also, FDG-PET showed hypometabolism in precuneus and bilateral temporo-parietal region and reduced blood flow in parietal and temporal lobes. In two patients, MRI showed parietal and temporal atrophy.
|
Increased Aβ42/Aβ40 ratio in vitro. Also, abrogated pH-sensitivity of Aβ peptide generation in vitro. In silico algorithms predicted benign (Polyphen) and damaging (SIFT).
|
Ikeda et al., 2013 |
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