Mutations Position Table
PSEN2 s175 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| S175C |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown; MRI showed focal atrophy in the medial temporal lobe; SPECT showed bilateral hypoperfusion in temporoparietal regions. |
Unknown, but in silico analyses predicted a damaging effect (PHRED-scaled CADD score > 20). |
Piscopo et al., 2010 |
| S175F |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but in one case brain imaging showed atrophy and hypometabolism consistent with AD. |
Unknown, but multiple in silico algorithms suggest it is damaging. |
Guven et al., 2021 |
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