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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