TARDBP Gly348Val Mutation Details

(Table Legend)

Gene

TARDBP

Name

g.8725G>T (relative to Met1 in NG_008734.1)
g.14831G>T (relative to nt1 in NG_008734.1)

Alias

Gly348Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGC to GTC

Details

Genomic

cDNA

Protein

Observed

g.14831G>T

Predicted

c.1043G>T

p.G348V

Region

EX6

CDS

Gly-Rich

Phenotype

Amyotrophic Lateral Sclerosis
Mean of Mean Onset Ages: 54.0y
Mean of Mean Ages at Death: 59.7y

Frequency

1 Family

Function

No Functional data available

Citations

Kirby J, Neurogenetics 11: 217-225, 2010

Citation Details

Added: October 20, 2010

ID: 573