Mutations Position Table
PSEN2 G359 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| G359Lfs*74 (Intron 11 delAG) |
ALS : Not Classified | Deletion | Splicing Alteration | Deletion; Frame Shift | Both | Intron 11 | Unknown. |
Deletion of an adenine in intron 11 resulting in exon 12 skipping and a frameshift starting at codon G359; new termination codon in the 3' UTR. |
Perrone et al., 2018 |
| G359Lfs*74 (Intron 11 delA) |
AD : Not Classified, MCI : Not Classified | Deletion | Splicing Alteration | Deletion; Frame Shift | Both | Intron 11 | Unknown, but MRI of MCI patient revealed mild atrophy in the hippocampus, and SPECT showed decreased metabolism in posterior and temporal cortices. |
Deletion of an adenine in intron 11 resulting in exon 12 skipping and a frameshift starting at codon G359; new termination codon in the 3' UTR. Reduced PSEN2 levels due to instability. CADD-PHRED = 23.9. |
Perrone et al., 2018 |
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