Mutations Position Table
PSEN1 p218 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| P218P |
AD : Likely Benign | Substitution | Splicing Alteration | Silent | Coding | Exon 7 | Unknown. |
Unknown. Predicted to potentially affect splicing in silico, but PHRED-scaled CADD = 5. |
Jia et al., 2020 |
| P218L |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown |
Unknown, but in silico analyses predict damaging (Polyphen) and deleterious (SIFT). |
Wojtas et al., 2012 |
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