Mutations Position Table
PSEN1 L248 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L248P |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown. |
Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42 in cultured cells. |
Jiao et al., 2014 |
| L248R |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown; in one case, neuroimaging showed prominent atrophy in the lateral fissure, and less prominent in parietofrontal regions |
Increased Aβ42/Aβ40 ratio, decreased Aβ37/Aβ42 ratio. Production of all Aβ peptides was decreased. |
Clarimón et al., 2008; Guerreiro et al., 2010 |
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