Mutations Position Table
APP E682 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| E682K (Leuven) |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 16 | Bilateral hippocampal volume loss; Cortical PiB uptake. |
Significantly increased total Aβ and Aβ42/Aβ40 levels; Shifts BACE1 cleavage toward the β-site. May also accelerate aggregation. |
Zhou et al., 2011 |
| E682V |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 16 | Unknown, but in one case MRI revealed cerebral infarctions and leukoaraiosis and SWI showed microbleeds and amyloidosis. |
Unknown, but predicted in silico to be deleterious. PHRED-scaled CADD = 33. |
Zhaoxia et al., 2023 |
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