Mutations Position Table

PSEN1 M146 Mutations

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/Aβ total ratio; increased Aβ42/Aβ40 ratio; increased Aβ42.

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 Aβ deposits, tangles, and Pick bodies.

Increased Aβ42/Aβ40 ratio; increased Aβ42; Inhibits store-operated calcium channel activity.

rs63750306
Coding
Exon 5
Point, Missense
ATG to GTG
6 1995
M146L (A>T)
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750306
Coding
Exon 5
Point, Missense
ATG to TTG
0 Morelli 1998
M146I (G>A)
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750391
Coding
Exon 5
Point, Missense
ATG to ATA
0 Jørgensen 1996
M146I (G>C)
Alzheimer's Disease Alzheimer's Disease : Pathogenic rs63750391
Coding
Exon 5
Point, Missense
ATG to ATC
0 Gustafson 1998