Mutations Position Table

PSEN1 M139 Mutations

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.

Increased Aβ42/Aβ40 ratio.

rs63751037
Coding
Exon 5
Point, Missense
ATG to GTG
0 , 1995
M139K
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Unknown.

rs63751106
Coding
Exon 5
Point, Missense
ATG to AAG
0 Dumanchin et al., 1998
M139T
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown.

Increased Aβ42/Aβ total ratio.

rs63751106
Coding
Exon 5
Point, Missense
ATG to ACG
0 Campion et al., 1995
M139I (G>C)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Possible mislocalization of presenilin-1 protein; co-localization with tangles.

Increased Aβ42/Aβ total ratio.

rs63750522
Coding
Exon 5
Point, Missense
ATG to ATC
0 Kim et al., 2010
M139I (G>A)
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Possible mislocalization of presenilin-1 protein; co-localization with tangles.

Increased Aβ42/Aβ total ratio.

rs63750522
Coding
Exon 5
Point, Missense
ATG to ATA
0 Boteva et al., 1996

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