Mutations Position Table
MAPT G389 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| G389R (G>A) |
FTD : Pathogenic, Other Tauopathy : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 13 | Severe frontal lobe atrophy; neuronal loss; astrocytosis; tissue vacuolation. |
Recombinant G389R tau showed a reduced ability to promote microtubule assembly and an increased susceptibility to calpain I digestion. |
Pickering-Brown et al., 2000 |
| G389R (G>C) |
FTD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 13 | Numerous neocortical tau-positive Pick body-like inclusions and filamentous axonal inclusions.
|
Recombinant G389R tau showed a reduced ability to promote microtubule assembly. |
Murrell et al., 1999; Ghetti et al., 2000; Rossi et al., 2008 |
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