Mutations Position Table
MAPT L284 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L284L |
FTD : Pathogenic | Substitution | Splicing Alteration | Isoform Shift; Silent | Coding | Exon 10 | A variety of tau aggregates in both neurons and glia. In addition, a substantial number of diffuse and neuritic Aβ plaques, possibly due to coincident AD. |
The silent L284L increases transcripts containing exon 10 and decreases transcripts lacking exon 10. The mutation is thought to destroy an exon-splicing silencing element. |
D'Souza et al., 1999 |
| L284R |
Other Tauopathy : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 10 | Unknown. |
Unknown. |
Rohrer et al., 2011 |
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