Mutations Position Table

PSEN1 E184 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
E184D
Alzheimer's Disease Alzheimer's Disease : Pathogenic, Dementia with Lewy Bodies : Pathogenic, Primary Progressive Aphasia : Pathogenic

Neuropathology consistent with AD in three cases. In addition, CAA pathology described in two cases. Also, in two cases, robust Lewy body pathology and, in one of these cases, accumulation of the non-Aβ component of AD amyloid (NAC) in plaques and astrocytes.

Decreased Aβ40 and Aβ42 production, and increased Aβ42:Aβ40 ratio, as assessed in vitro.

rs63750311
Coding
Exon 7
Point, Missense
GAA to GAC
0 Yasuda et al., 1997
E184G
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, but MRI of one patient revelaed global cortical atrophy.

Increased Aβ42/Aβ40 ratio, with decreased Aβ42 and Aβ40 production in vitro. In silico algorithms predicted the mutation is damaging and causes structural alterations. Also, mutation is near splice site.


Coding
Exon 7
Point, Missense
GAA to GGA
0 Wallon et al., 2012

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