Mutations Position Table
MAPT D285 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| D285D |
FTD : Benign | Substitution | Substitution | Silent | Coding | Exon 4a | Not applicable. |
Unknown. |
Poorkaj et al., 1998 |
| D285N |
FTD : Benign, Other Tauopathy : Incomplete Penetrance | Substitution | Substitution | Missense | Coding | Exon 4a | Unknown. |
Unknown. |
Poorkaj et al., 1998; Higgins et al., 1999 |
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