Mutations Position Table
PSEN2 M174 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| M174I |
Alzheimer's Disease | AD : Not Classified | Neuropathology consistent with AD. | Unknown, but in silico algorithm predicted damaging (PHRED-scaled CADD > 20). | Coding | Exon 7 | Point, Missense ATG to ATA |
0 | Wong et al., 2019 | |
| M174V |
Alzheimer's Disease, Frontotemporal Dementia | AD : Benign | 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. | rs61757781 |
Coding | Exon 7 | Point, Missense ATG to GTG |
0 | Andreoli et al., 2008; Clarimón et al., 2008; Guerreiro et al., 2010 |
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