MAPT IVS10+3G>A Mutation Details

(Table Legend)

Gene

MAPT

Name

g.123806G>A (relative to Met1 in AC091628.2)
g.120985G>A (relative to nt1 in NG_007398.1)

Alias

IVS10+3G>A

Description

Point mutation in intronic region affecting splicing of exon 10

Codon Change

From G to A

dbSNP ID

rs63750013

Details

Genomic

cDNA

Protein

Observed

g.123806G>A

Predicted

Region

IVS10

Phenotype

Frontotemporal Dementia / Progressive Supranuclear Palsy
Mean of Mean Onset Ages: 45.4y
Mean of Mean Ages at Death: 52.4y

Frequency

3 Families

Function

No Functional data available

Citations

Spillantini MG, Proceedings of the National Academy of Sciences USA 94: 4113-4118, 1997
Murrell JR, American Journal of Human Genetics 61: 1131-1138, 1997
Spillantini MG, Proceedings of the National Academy of Sciences USA 95: 7737-7741, 1998
Tolnay M, Neuropathology and Applied Neurobiology 26: 368-378, 2000
Neumann M, Neuropathology and Applied Neurobiology 31: 362-373, 2005
Ghetti B, Neurodegenerative Diseases 5: 215-217, 2008
Spina S, Brain 131: 72-89, 2008

Citation Details

Added: December 21, 2003
Last Modified: September 17, 2008

ID: 197