Alzheimer Disease & Frontotemporal Dementia Mutation Database

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MAPT Pro301Leu Mutation Details

(Table Legend)

Gene

MAPT

Name

g.123790C>T (relative to Met1 in AC091628.2)
g.120969C>T (relative to nt1 in NG_007398.1)

Alias

Pro301Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CCG to CTG

dbSNP ID

rs63751273

Details

Genomic

cDNA

Protein

Observed

g.123790C>T

Predicted

c.1907C>T

p.P636L

Region

EX10

CDS

R2

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 52.6y
Mean of Mean Ages at Death: 59.3y

Frequency

32 Families

Function

No Functional data available

Citations

Hutton M, Nature 393: 702-705, 1998
Geschwind D, Annals of Neurology 44: 134-138, 1998
Dumanchin C, Human Molecular Genetics 7: 1825-1829, 1998
Clark LN, Proceedings of the National Academy of Sciences USA 95: 13103-13107, 1998
Spillantini MG, American Journal of Pathology 153: 1359-1363, 1998
Rizzu P, American Journal of Human Genetics 64: 414-421, 1999
Bird TD, Brain 122: 741-756, 1999
Mirra SS, Journal of Neuropathology and Experimental Neurology 58: 335-345, 1999
Nasreddine ZS, Annals of Neurology 45: 704-715, 1999
Houlden H, Annals of Neurology 46: 243-248, 1999
van Swieten JC, Annals of Neurology 46: 617-626, 1999
Kodama K, Journal of the Neurological Sciences 176: 57-64, 2000
Tanaka R, Journal of Neurology 247: 705-707, 2000
Rizzu P, Human Molecular Genetics 9: 3075-3082, 2000
Poorkaj P, Archives of Neurology 58: 383-387, 2001
Kowalska A, Dementia and Geriatric Cognitive Disorders 12: 387-392, 2001
Kobayashi T, Journal of Neurology 249: 669-67, 2002
Walker RH, Parkinsonism and Related Disorders 9: 121-123, 2002
Binetti G, Neuroscience Letters 338: 85-87, 2003
Sobrido MJ, Archives of Neurology 60: 698-702, 2003
Rosso SM, Archives of Neurology 60: 1209-1213, 2003
Rosso SM, Brain 126: 2016-2022, 2003
Stanford PM, Journal of Neurology 251: 1098-1104, 2004
Benussi L, Experimental Cell Research 308: 78-84, 2005
Lladó A, Journal of Neurology 253 Suppl 2: ii40, 2006
Lladó A, Journal of Neurology 255: 488-494, 2008
López de Munain A, Biological Psychiatry 63: 946-952, 2008

Citation Details

Added: December 21, 2003
Last Modified: June 3, 2008

ID: 196



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