TARDBP Met337Val Mutation Details

(Table Legend)

Gene

TARDBP

Name

g.8691A>G (relative to Met1 in NG_008734.1)
g.14797A>G (relative to nt1 in NG_008734.1)

Alias

Met337Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From ATG to GTG

Details

Genomic

cDNA

Protein

Observed

g.14797A>G

Predicted

c.1009A>G

p.M337V

Region

EX6

CDS

Gly-Rich

Phenotype

Amyotrophic Lateral Sclerosis
Mean of Mean Onset Ages: 45.3y
Mean of Mean Ages at Death: 50.8y

Frequency

4 Families

Function

No Functional data available

Citations

Sreedharan J, Science 319: 1668-1672, 2008
Rutherford NJ, PLoS Genetics 4: e1000193, 2008
Corrado L, Human Mutation 30: 688-694, 2009
Kirby J, Neurogenetics 11: 217-225, 2010

Citation Details

Added: May 29, 2009
Last Modified: October 19, 2010

ID: 480