MAPT Ser320Phe Mutation Details

(Table Legend)

Gene

MAPT

Name

g.127687C>T (relative to Met1 in AC091628.2)
g.124866C>T (relative to nt1 in NG_007398.1)

Alias

Ser320Phe

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TTC to TTC

dbSNP ID

rs63750635

Details

Genomic

cDNA

Protein

Observed

g.127687C>T

Predicted

c.1964C>T

p.S655F

Region

EX11

CDS

R3

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 38.0y
Mean of Mean Ages at Death: 53.0y

Frequency

1 Family

Function

No Functional data available

Citations

Rosso SM, Annals of Neurology 51: 373-376, 2002
Rosso SM, Brain 126: 2016-2022, 2003
Rohrer JD, Neurology 73: 1451-1456, 2009
Rohrer JD, Neuroimage 53: 1070-1076, 2010

Citation Details

Added: December 21, 2003

ID: 188