MAPT IVS10+16C>T Mutation Details

(Table Legend)

Gene

MAPT

Name

g.123819C>T (relative to Met1 in AC091628.2)
g.120998C>T (relative to nt1 in NG_007398.1)

Alias

IVS10+16C>T

Description

Point mutation in intronic region affecting splicing of exon 10

Codon Change

From C to T

dbSNP ID

rs63751011

Details

Genomic

cDNA

Protein

Observed

g.123819C>T

Predicted

Region

IVS10

Phenotype

Frontotemporal Dementia / Alzheimer Disease
Mean of Mean Onset Ages: 49.1y
Mean of Mean Ages at Death: 59.4y

Frequency

27 Families

Function

No Functional data available

Citations

Lanska DJ, Neurology 44: 1633-1643, 1994
Petersen RB, Neurology 45: 1062-1067, 1995
Brown J, Journal of the Neurological Sciences 135: 21-30, 1996
Yamaoka LH, American Journal of Human Genetics 59: 1306-1312, 1996
Dark F, The Australian and New Zealand Journal of Psychiatry 31: 139-144, 1997
Baker M, Annals of Neurology 42: 794-798, 1997
Hutton M, Nature 393: 702-705, 1998
Goedert M, Nature Medicine 5: 454-457, 1999
Houlden H, Annals of Neurology 46: 243-248, 1999
Hulette CM, Journal of Neuropathology and Experimental Neurology 58: 859-866, 1999
Poorkaj P, Archives of Neurology 58: 383-387, 2001
Morris HR, Archives of Neurology 58: 1813-1816, 2001
Pickering-Brown SM, Brain 125: 732-751, 2002
Janssen JC, Neurology 58: 1161-1168, 2002
Lantos PL, Neurology 58: 1169-1175, 2002
Tsuboi Y, Neurology 60: 525-526, 2003
Morris HR, Neurology 61: 102-104, 2003
Stanford PM, Journal of Neurology 251: 1098-1104, 2004
Doran M, Archives of Neurology 64: 1535-1539, 2007
Larner AJ, Alzheimer Disease and Associated Disorders 22: 194-195, 2008
Colombo R, Neurogenetics 10: 313-318, 2009
Rohrer JD, Neurology 73: 1451-1456, 2009
Larner AJ, Journal of Neurological Sciences 287: 253-256, 2009
Rohrer JD, Neuroimage 53: 1070-1076, 2010

Citation Details

Added: December 21, 2003
Last Modified: October 26, 2010

ID: 202