| Inheritance | Autosomal dominant |
| Gene | APP (Amyloid Precursor Protein) |
| Chromosome | 21q21.3 |
| Mutation | E693G (Glu693Gly) |
| cDNA Change | c.2128A>G |
| Discovery | 1998, Swedish family (Nordstedt et al.) |
| Location | Within the Aβ sequence (Aβ position 22) |
| Effect | Does NOT significantly increase total Aβ production |
| Primary effect | Alters Aβ aggregation properties |
| Production | Normal or slightly reduced |
| Aggregation | Markedly accelerated |
| Protofibrils | Increased formation of toxic Aβ protofibrils |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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