Mutations Position Table
PSEN1 L232 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L232P |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but MRI revealed diffuse cortical atrophy, especially in the frontal and parietal lobes. |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Park et al., 2017 |
| L232F |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown, but in one carrier, CSF biomarkers consistent with AD. |
Unknown, but in silico algorithm predicted deleterious (PHRED-scaled CADD = 26.1). |
Küçükali et al., 2023 |
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