MAPT Asn279Lys Mutation Details

(Table Legend)

Gene

MAPT

Name

g.123725T>G (relative to Met1 in AC091628.2)
g.120904T>G (relative to nt1 in NG_007398.1)

Alias

Asn279Lys

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AAT to AAG

dbSNP ID

rs63750756

Details

Genomic

cDNA

Protein

Observed

g.123725T>G

Predicted

c.1842T>G

p.N614K

Region

EX10

CDS

IR1-2

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 42.5y
Mean of Mean Ages at Death: 49.0y

Frequency

7 Families

Function

Summary table showing mean of (n) reports

Function Details

Citations

Wszolek ZK, Annals of Neurology 32: 312-320, 1992
Kawai J, Acta Neuropathologica 86: 609-616, 1993
Wijker M, Human Molecular Genetics 5: 151-154, 1996
Reed LA, Journal of Neuropathology and Experimental Neurology 57: 588-601, 1998
Wszolek ZK, Electroencephalography and Clinical Neurophysiology 107: 213-222, 1998
Clark LN, Proceedings of the National Academy of Sciences USA 95: 13103-13107, 1998
Delisle MB, Acta Neuropathologica 98: 62-77, 1999
Yasuda M, Neurology 53: 864-868, 1999
Arima K, Neurology 54: 1787-1795, 2000
Wszolek ZK, Neurology 55: 1939, 2000
McRae CA, European Journal of Neurology 8: 179-183, 2001
Kowalska A, Dementia and Geriatric Cognitive Disorders 12: 387-392, 2001
Tsuboi Y, Archives of Neurology 59: 943-950, 2002
Cheshire WP, Autonomic Neuroscience 102: 71-77, 2002
Tsuboi Y, Neurology 59: 1791-1793, 2002
Caviness JN, Parkinsonism and Related Disorders 9: 151-157, 2003
Ferman TJ, Parkinsonism and Related Disorders 9: 265-270, 2003
Soliveri P, Archives of Neurology 60: 1454-1456, 2003
Woodruff BK, Archives of Neurology 61: 1327, 2004

Citation Details

Added: December 20, 2003
Last Modified: December 9, 2008

ID: 178