Mutations Position Table
PSEN2 L238 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L238P |
AD : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown; MRI showed supratentorial cortical atrophy, particularly atrophy of the parietal cortex. |
Unknown; predicted damaging in silico (PHRED-scaled CADD score = 26.7). |
Blauwendraat et al., 2016 |
| L238F |
AD : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown. |
Increased Aβ42/Aβ40 ratio in cellular assay. |
Sala Frigerio et al., 2015 |
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