Mutations Position Table
PSEN1 L262 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L262F |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | A brain biopsy from one case "confirmed the diagnosis of AD". |
Increased Aβ42/Aβ40 ratio in vitro, exhibiting a moderate increase in Aβ42 production, and a decrease in Aβ40 production. |
Forsell et al., 1997 |
| L262S |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown |
Predicted to be damaging by four different algorithms, with a PHRED-CADD score of 32. |
Wang et al., 2019 |
| L262V |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown. |
Unknown; predicted probably damaging in silico. |
Wallon et al., 2012; Lohmann et al., 2012 |
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