Alzheimer Disease & Frontotemporal Dementia Mutation Database

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MAPT Thr427Met Mutation Details

(Table Legend)

Gene

MAPT

Name

g.137535C>T (relative to Met1 in AC091628.2)
g.134713C>T (relative to nt1 in NG_007398.1)

Alias

Thr427Met

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ACG to ATG

dbSNP ID

rs63750991

Details

Genomic

cDNA

Protein

Observed

g.137535C>T

Predicted

c.2285C>T

p.T762M

Region

EX13

CDS

C-Term

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 66.0y

Frequency

1 Family

Function

No Functional data available

Citations

Giaccone G, Neurobiology of Aging 25 (S2): 449-450, 2004
Giaccone G, Journal of Neurology 252: 1543-1545, 2005

Citation Details

Added: September 21, 2004

ID: 232



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