Mutations Position Table

PSEN1 E120 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
E120D (A>C)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

rs63751272
Coding
Exon 5
Point, Missense
GAA to GAC
0 Poorkaj et al., 1998
E120D (A>T)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

rs63751272
Coding
Exon 5
Point, Missense
GAA to GAT
0 Reznik-Wolf et al., 1996
E120G
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Frequent amyloid plaques and neurofibrillary tangles; Severe amyloid angiopathy.
 

Unknown; predicted probably damaging in silico.


Coding
Exon 5
Point, Missense
GAA to GGA
0 Lladó et al., 2009;
Gómez-Tortosa et al., 2010
E120K
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Increased Aβ42/Aβ total ratio in cell lines.

rs63750800
Coding
Exon 5
Point, Missense
GAA to AAA
0 Hutton et al., 1996