GRN Met1 Mutation Details

(Table Legend)

Gene

GRN

Name

g.1A>G (relative to Met1 in Reverse Complement of AC003043.1)
g.9043A>G (relative to nt1 in NG_007886.1)

Alias

Met1

Description

Point mutation in translation initiation codon predicted to result in reduced mRNA levels

Codon Change

From ATG to GTG

Details

Genomic

cDNA

Protein

Observed

g.1A>G

Predicted

c.0

p.M1?

Region

EX2

CDS

Signal peptide

Phenotype

Frontotemporal Dementia / Primary Progressive Aphasia
Mean of Mean Onset Ages: 55.0y
Mean of Mean Ages at Death: 55.0y

Frequency

1 Family

Function

No Functional data available

Citations

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

Citation Details

Added: February 14, 2008

ID: 409