Mutations Position Table
PSEN1 L392 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L392P |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 11 | Unknown |
Unknown |
Tedde et al., 2000 |
| L392V |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Neuropathology consistent with AD, including cortical atrophy, amyloid plaques, and neurofibrillary tangles. |
Increased Aβ42:Aβ40 ratio; increased Aβ48-39 production line, including Aβ42, in cells; decreased Aβ40 production in vitro. Impaired Notch cleavage. |
Campion et al., 1995; Campion et al., 1995; Rogaev et al., 1995; Campion et al., 1999 |
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