Mutations Position Table
PSEN1 I227 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| I227L |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown |
Unknown, but the variant's PHRED-scaled CADD score was above 20 suggesting a deleterious effect. |
Jiao et al., 2021 |
| I227V |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown |
Unknown. In silico algorithms predicted damaging effect (CADD>20). |
Koriath et al., 2018 |
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