Mutations Position Table

PSEN1 E273 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
E273A
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown

Increased Aβ42 and Aβ42/Aβ40 ratio in vitro; disrupted calcium flow in ER.

rs63750772
Coding
Exon 8
Point, Missense
GAA to GCA
0 Kamimura et al., 1998
E273G
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.


Coding
Exon 8
Point, Missense
GAA to GGA
0 Wallon et al., 2012

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