Mutations Position Table
MAPT S320 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| S320F |
FTD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 11 | Neuropathology consistent with Pick's disease. Focal bilateral atrophy of the anterior temporal lobes with only very mild frontal atrophy; Severe neuronal loss and gliosis in the temporal cortex, cingulate gyrus, entorhinal cortex, and hippocampus. |
A marked reduction in the ability of tau to promote microtubule assembly; Removal of a potential phosphorylation site in tau. |
Rosso et al., 2002 |
| S320Y |
Other Tauopathy : Not Classified | Coding | Exon 11 | Unknown. |
Unknown. |
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