Mutations Position Table
PSEN1 A136 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| A136G |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 5 | In vitro assays showed a moderate decrease in both Aβ40 and Aβ42 production, with the Aβ42/Aβ40 ratio remaining roughly similar to wildtype. Neuroblastoma cells carrying the mutation showed enhanced sensitivity to trophic withdrawal. Also, the mutation enhanced PSEN1 cleavage of ER calcium sensor STIM1, resulting in dendritic spine disruption. |
Xu et al., 2002 | |
| A136V |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown, but in one case MRI showed hippocampal atrophy and FDG-PET hypometabolism in temporal, parietal, and occipital cortices. Aβ42 and tau in CSF were consistent with AD. |
Unknown, but in silico algorithms (SIFT, Polyphen2) predicted damaging. |
Li et al., 2021 |
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