TARDBP Gly287Ser Mutation Details

(Table Legend)

Gene

TARDBP

Name

g.8541G>A (relative to Met1 in NG_008734.1)
g.14647G>A (relative to nt1 in NG_008734.1)

Alias

Gly287Ser

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GGT to AGT

Details

Genomic

cDNA

Protein

Observed

g.14647G>A

Predicted

c.859G>A

p.G287S

Region

EX6

CDS

Gly-Rich

Phenotype

Amyotrophic Lateral Sclerosis
Mean of Mean Onset Ages: 61.7y
Mean of Mean Ages at Death: 77.8y

Frequency

3 Families

Function

No Functional data available

Citations

Kabashi E, Nature Genetics 40: 572-574, 2008
Corrado L, Human Mutation 30: 688-694, 2009
Kirby J, Neurogenetics 11: 217-225, 2010

Citation Details

Added: June 26, 2009
Last Modified: October 22, 2010

ID: 495