Mutations Position Table

PSEN1 E120 Mutations

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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.

[MET1] g.25563A>C
[NT1] g.42117A>C
rs63751272
Coding
Exon 5
Point, Missense
GAA to GAC
0 Poorkaj 1998
E120D (A>T)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

[MET1] g.25563A>T
[NT1] g.42117A>T
rs63751272
Coding
Exon 5
Point, Missense
GAA to GAT
0 Reznik-Wolf 1996
E120G
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Frequent amyloid plaques and neurofibrillary tangles along with severe amyloid angiopathy.
  

In silico, this mutation was predicted “probably damaging” by PolyPhen.

[MET1] g.25562A>G
[NT1] g.42116A>G

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

Neuropathology consistent with AD.

Increased Aβ42/Aβtotal ratio in cell lines.

[MET1] g.25561G>A
[NT1] g.42115G>A
rs63750800
Coding
Exon 5
Point, Missense
GAA to AAA
0 Hutton 1996