Mutations Position Table
PSEN1 V151 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| V151V |
AD : Not Classified | Substitution | Splicing Alteration | Silent | Coding | Exon 5 | Unknown. |
Unknown. Predicted to potentially affect splicing in silico, but PHRED-scaled CADD = 11. |
Jia et al., 2020 |
| V151M |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 5 | Unknown |
Unknown, but in silico analyses predicted a damaging effect (PHRED-scaled CADD score > 20). |
Jiao et al., 2021 |
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