MAPT Pro301Ser Mutation Details

(Table Legend)

Gene

MAPT

Name

g.123789C>T (relative to Met1 in AC091628.2)
g.120968C>T (relative to nt1 in NG_007398.1)

Alias

Pro301Ser

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CCG to TCG

dbSNP ID

rs63751438

Details

Genomic

cDNA

Protein

Observed

g.123789C>T

Predicted

c.1906C>T

p.P636S

Region

EX10

CDS

R2

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 33.7y
Mean of Mean Ages at Death: 37.9y

Frequency

6 Families

Function

No Functional data available

Citations

Bugiani O, Journal of Neuropathology and Experimental Neurology 58: 667-677, 1999
Sperfeld AD, Annals of Neurology 46: 708-715, 1999
Bugiani O, Annals of Neurology 48: 126, 2000
Yasuda M, Neurology 55: 1224-1227, 2000
Morris HR, Archives of Neurology 58: 1813-1816, 2001
Lossos A, Journal of Neurology 250: 733-740, 2003
Huey ED, Annals of Neurology 60: 374-380, 2006

Citation Details

Added: December 20, 2003
Last Modified: September 20, 2006

ID: 184