GRN Met1 Mutation Details

(Table Legend)

Gene

GRN

Name

g.2T>C (relative to Met1 in Reverse Complement of AC003043.1)
g.9044T>C (relative to nt1 in NG_007886.1)

Alias

Met1

Description

Point mutation in translation initiation codon resulting in reduced mRNA levels

Codon Change

From ATG to ACG

dbSNP ID

rs63751006

Details

Genomic

cDNA

Protein

Observed

g.2T>C

c.0

p.0

Predicted

p.M1?

Region

EX2

CDS

Signal peptide

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 51.0y

Frequency

2 Families

Function

No Functional data available

Citations

Baker M, Nature 442: 916-919, 2006
Gass J, Human Molecular Genetics 15: 2988-3001, 2006

Citation Details

Added: August 24, 2006
Last Modified: March 9, 2009

ID: 270