Mutations Position Table
PSEN1 R220 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| R220P |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown; MRI showed diffuse cortico-subcortical cerebral atrophy with multiple foci in the deep white matter. |
Unknown; predicted to be damaging in silico (CADD score > 20). |
Piccoli et al., 2016 |
| R220Q |
AD : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown. |
Unknown, but in silico algorithms predicted a damaging effect (PHRED-scaled CADD = 22.9). |
Wang et al., 2023 |
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