| Gene | APP (Amyloid Precursor Protein) |
| Chromosomal location | 21q21.3 |
| Mutation | E693Q (Glu693Gln) — also written as APP E22Q using Aβ numbering where Aβ1 starts at position 1 of the Aβ peptide |
| cDNA change | c.2127G>C |
| Protein change | p.Glu693Gln |
| Aβ numbering | Position 22 (Aβ1-40/42 numbering) |
| β-secretase cleavage | Unchanged or slightly reduced |
| γ-secretase cleavage | Normal, with unaltered Aβ40/Aβ42 ratio |
| Total Aβ production | Normal or slightly reduced compared to wild-type APP |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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