Mutations Position Table
PSEN1 I213 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| I213T |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown. |
Decreased short (Aβ38, Aβ40, and Aβ42), and increased long (Aβ43, Aβ45, Aβ46+) Aβ peptides in cell lysates and knockin mouse brains. Increased Aβ42/Aβ40 ratio, and decreased Aβ38/Aβ42 and Aβ40/Aβ43 ratios. Also inhibits neuroprotection by trophic factors and impairs angiogenesis in KI mice.
|
Kamino et al., 1996 |
| I213F |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown |
Increased Aβ40 and Aβ42 secretion, and increased Aβ42/Aβ40 ratio in transfected cells. |
Zekanowski et al., 2003 |
| I213L |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown |
Increased Aβ40 and Aβ42 production, and an increase in the Aβ42:Aβ40 ratio as assessed in vitro. |
Rogaeva et al., 2001 |
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