Mutations Position Table

PSEN1 p218 Mutations

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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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