GRN Trp7Arg Mutation Details

(Table Legend)

Gene

GRN

Name

g.19T>C (relative to Met1 in Reverse Complement of AC003043.1)
g.9061T>C (relative to nt1 in NG_007886.1)

Alias

Trp7Arg

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From TGG to CGG

Details

Genomic

cDNA

Protein

Observed

g.19T>C

Predicted

c.19T>C

p.W7R

Region

EX2

CDS

Signal peptide

Phenotype

? (Pathogenic nature unclear)
Mean of Mean Onset Ages: 51.0y

Frequency

1 Family

Function

No Functional data available

Citations

Le Ber I, Brain 131: 732-746, 2008

Citation Details

Added: February 14, 2008
Last Modified: June 25, 2008

ID: 410