MAPT Asn296His Mutation Details

(Table Legend)

Gene

MAPT

Name

g.123774A>C (relative to Met1 in AC091628.2)
g.120953A>C (relative to nt1 in NG_007398.1)

Alias

Asn296His

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AAT to CAT

dbSNP ID

rs63750416

Details

Genomic

cDNA

Protein

Observed

g.123774A>C

Predicted

c.1891A>C

p.N631H

Region

EX10

CDS

R2

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 62.0y

Frequency

1 Family

Function

No Functional data available

Citations

Iseki E, Acta Neuropathologica 102: 285-292, 2001

Citation Details

Added: December 20, 2003

ID: 182