Alzheimer Disease & Frontotemporal Dementia Mutation Database

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MAPT Arg406Trp Mutation Details

(Table Legend)

Gene

MAPT

Name

g.137471C>T (relative to Met1 in AC091628.2)
g.134649C>T (relative to nt1 in NG_007398.1)

Alias

Arg406Trp

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CGG to TGG

dbSNP ID

rs63750424

Details

Genomic

cDNA

Protein

Observed

g.137471C>T

Predicted

c.2221C>T

p.R741W

Region

EX13

CDS

C-Term

Phenotype

Frontotemporal Dementia / Alzheimer Disease
Mean of Mean Onset Ages: 56.3y
Mean of Mean Ages at Death: 67.8y

Frequency

9 Families

Function

No Functional data available

Citations

Dickson DW, Annals of Neurology 42: 541-544, 1997
Reed LA, Annals of Neurology 42: 564-572, 1997
Hutton M, Nature 393: 702-705, 1998
Rizzu P, American Journal of Human Genetics 64: 414-421, 1999
van Swieten JC, Annals of Neurology 46: 617-626, 1999
Miyasaka T, American Journal of Pathology 158: 373-379, 2001
Saito Y, Neurology 58: 811-813, 2002
Rosso SM, Brain 126: 2016-2022, 2003
Rademakers R, Human Mutation 22: 409-411, 2003
Ostojic J, Dementia and Geriatric Cognitive Disorders 17: 298-301, 2004
Passant U, Dementia and Geriatric Cognitive Disorders 17: 287-292, 2004
Lindquist SG, European Journal of Neurology 15: 377-385, 2008
Ikeuchi T, Dementia and geriatric cognitive disorders 26: 43-49, 2008
Lindquist SG, Alzheimer's & Dementia 4 Supp 2: T604, 2008
Lindquist S, Clinical Genetics 76: 205-209, 2009

Citation Details

Added: December 21, 2003
Last Modified: August 26, 2009

ID: 195



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