Mutations Position Table
PSEN2 M174 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| M174I |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Neuropathology consistent with AD. |
Unknown, but in silico algorithm predicted damaging (PHRED-scaled CADD > 20). |
Wong et al., 2020 |
| M174V |
AD : Benign | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown; imaging has shown frontal atrophy and hypoperfusion in temporoparietal regions. |
Decreased Aβ40 modestly without significantly changing the Aβ42/Aβ40 ratio in a cell assay. |
Andreoli et al., 2008; Clarimón et al., 2008; Guerreiro et al., 2010 |
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