Mutations Position Table

PSEN2 M174 Mutations

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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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