Mutations Position Table
PSEN2 A258 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| A258V |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown |
Reduced Aβ40 and Aβ42 in a cellular assay without affecting the Aβ42/Aβ40 ratio. |
Yagi et al., 2014 |
| A258T |
AD : Benign | Substitution | Substitution | Missense | Coding | Exon 8 | Not applicable. |
Unknown, but in silico analysis predicted a damaging effect (PHRED-scaled CADD = 26.8). |
Sala Frigerio et al., 2015 |
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