Mutations Position Table

MAPT S320 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
S320F
Frontotemporal Dementia Frontotemporal Dementia : Pathogenic

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.

[MET1] g.127687C>T
[NT1] g.124866C>T
rs63750635
Coding
Exon 11
Point, Missense
TCC to TTC
0 Rosso 2002
S320Y
Tauopathy similar to Pick's Disease Other Tauopathy : Pathogenic

Unknown.

Unknown.


Coding
Exon 11
Point, Missense
0