Mutations Position Table

PSEN1 A260 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
A260G
Alzheimer's Disease Alzheimer's Disease : Pathogenic, Cerebral Amyloid Angiopathy :

Unknown, but CSF bimoarkers were consistent with AD in two patients and MRI revealed mild cortical and hippocampal atrophy in one patient and signs of CAA in two patients. 

Unknown


Coding
Exon 8
Point, Missense
GCT to GGT
0 Ryman et al., 2014;
Piaceri et al., 2020
A260V
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD. Also, perivascular amyloid deposits and Pick-like intra-nueronal inclusions in the dentate gyrus.

Reduced production of Aβ40 and Aβ42; increased Aβ42/Aβ40 ratio in cells and in vitro. 

rs63751420
Coding
Exon 8
Point, Missense
GCT to GTT
0 Rogaev et al., 1995;
Ikeda et al., 1996

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