MAPT ΔK280;ΔK281 Mutation Details

(Table Legend)

Gene

MAPT

Name

g.123729_123731delAAG (relative to Met1 in AC091628.2)
g.120908_120910delAAG (relative to nt1 in NG_007398.1)

Alias

ΔK280;ΔK281

Description

Trinucleotide deletion resulting in deletion of 1 amino acid

Codon Change

From AAG to -

dbSNP ID

rs63750688

Details

Genomic

cDNA

Protein

Observed

g.123729_123731delAAG

Predicted

c.1846_1848delAAG

p.deltaK616

Region

EX10

CDS

IR1-2

Phenotype

Frontotemporal Dementia / Alzheimer Disease (Pathogenic nature unclear)
Mean of Mean Onset Ages: 62.0y
Mean of Mean Ages at Death: 81.0y

Frequency

2 Families

Function

Summary table showing mean of (n) reports

Function Details

Citations

Rizzu P, American Journal of Human Genetics 64: 414-421, 1999
Rosso SM, Brain 126: 2016-2022, 2003
Momeni P, Neurobiology of Aging 30: 388-393, 2009
Rohrer JD, Neurology 73: 1451-1456, 2009

Citation Details

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

ID: 179