Mutations Position Table

MAPT S320 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
S320F
Frontotemporal Dementia, Tauopathy consistent with Pick's Disease Frontotemporal Dementia : Pathogenic

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.

rs63750635
Coding
Exon 11
Point, Missense
TCC to TTC
0 Rosso et al., 2002
S320Y
Tauopathy consistent with Pick's Disease Other Tauopathy : Pathogenic

Unknown.

Unknown.


Coding
Exon 11
Point, Missense
0

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