Mutations Position Table

PSEN1 M139 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
M139V
Alzheimer's Disease, Atypical Dementia Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Elevated Aβ42/Aβ40 ratio in vitro.

[MET1] g.25618A>G
[NT1] g.42172A>G
rs63751037
Coding
Exon 5
Point, Missense
ATG to GTG
0 1995
M139K
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

[MET1] g.25619T>A
[NT1] g.42173T>A
rs63751106
Coding
Exon 5
Point, Missense
ATG to AAG
0 Dumanchin 1998
M139T
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Elevated Aβ42/Aβtotal ratio in vitro.

[MET1] g.25619T>C
[NT1] g.42173T>C
rs63751106
Coding
Exon 5
Point, Missense
ATG to ACG
0 Campion 1995
M139I (G>C)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Possible mislocalization of presenilin-1 protein, including within tangles.

Increases the Aβ42/Aβtotal ratio in vitro.

[MET1] g.25620G>C
[NT1] g.42174G>C
rs63750522
Coding
Exon 5
Point, Missense
ATG to ATA
0 Kim 2010
M139I (G>A)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Possible mislocalization of presenilin-1 protein, including to tangles.

Increases the Aβ42/Aβtotal ratio in vitro.

[MET1] g.25620G>A
[NT1] g.42174G>A
rs63750522
Coding
Exon 5
Point, Missense
ATG to ATC
0 Boteva 1996