Mutations Position Table
PSEN2 A258 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| A258T |
None | Alzheimer's Disease : Not Pathogenic | Not applicable. |
Unknown. |
rs148238688 |
Coding Exon 7 |
Point, Missense GCC to ACC |
0 | Sala Frigerio et al., 2015 |
| A258V |
Alzheimer's Disease | Alzheimer's Disease : Unclear Pathogenicity | Unknown |
Predicted not pathogenic in silico. |
rs14443227784 |
Coding Exon 7 |
Point, Missense GCC to GTC |
0 | Yagi et al., 2014 |
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