Mutations Position Table
PSEN1 E273 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| E273A |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown |
Increased Aβ42 and Aβ42/Aβ40 ratio in vitro; disrupted calcium flow in ER. |
rs63750772 |
Coding Exon 8 |
Point, Missense GAA to GCA |
0 | Kamimura et al., 1998 |
| E273G |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown. |
Unknown. |
Coding Exon 8 |
Point, Missense GAA to GGA |
0 | Wallon et al., 2012 |
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