Mutations Position Table

PSEN1 M146 Mutations

Tools

Back to the Top
Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
M146L (A>C)
Alzheimer's Disease, Pick's disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD in multiple affected mutation carriers. Pick bodies also have been noted in some cases.

Increased Aβ42 levels and the Aβ42/Aβ40 and Aβ42/Aβ total ratios.

[MET1] g.25639A>C
[NT1] g.42193A>C
rs63750306
Coding
Exon 5
Point, Missense
ATG to CTG
3 Sherrington 1995;
Sorbi 1995;
1995
M146V
Alzheimer's Disease, Frontotemporal Dementia Alzheimer's Disease : Pathogenic, Frontotemporal Dementia : Unclear Pathogenicity

Variable. Neuropathology consistent with AD in some cases, but also in at least one case, mixed pathology including frequent β-amyloid deposits, tangles, and Pick bodies.

In vitro, increased the ratio of Aβ42/Aβ40. Inhibits store-operated calcium channel activity.

[MET1] g.25639A>G
[NT1] g.42193A>G
rs63750306
Coding
Exon 5
Point, Missense
ATG to GTG
3 1995
M146L (A>T)
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.25639A>T
[NT1] g.42193A>T
rs63750306
Coding
Exon 5
Point, Missense
ATG to TTG
0 Morelli 1998
M146I (G>A)
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.25641G>A
[NT1] g.42195G>A
rs63750391
Coding
Exon 5
Point, Missense
ATG to ATA
0 Jørgensen 1996
M146I (G>C)
Alzheimer's Disease Alzheimer's Disease : Pathogenic [MET1] g.25641G>C
[NT1] g.42195G>C
rs63750391
Coding
Exon 5
Point, Missense
ATG to ATC
0 Gustafson 1998