Mutations Position Table
APP K724 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| K724M |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 17 | Unknown, but in one carrier, MRI revealed mild global brain atrophy and enlargement of the ventricles. |
Increased Aβ42/Aβ40 ratio and Aβ42 levels in cultured cells. |
Peng et al., 2014 |
| K724N (Belgian) |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 17 | Neuropathology consistent with AD in one carrier. |
Increased Aβ42/Aβ40 ratio; increased Aβ42; decreased Aβ40 in cells. |
Theuns et al., 2006 |
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