GRN Trp386X Mutation Details

(Table Legend)

Gene

GRN

Name

g.2609G>A (relative to Met1 in Reverse Complement of AC003043.1)
g.11651G>A (relative to nt1 in NG_007886.1)

Alias

Trp386X

Description

Point mutation in coding region creating a premature termination codon predicted to result in nonsense-mediated mRNA decay

Codon Change

From TGG to TAG

dbSNP ID

rs63751213

Details

Genomic

cDNA

Protein

Observed

g.2609G>A

Predicted

c.1157G>A

p.W386X

Region

EX10

CDS

GranC

Phenotype

Frontotemporal Lobar Degeneration
Mean of Mean Onset Ages: 62.7y
Mean of Mean Ages at Death: 71.0y

Frequency

3 Families

Function

No Functional data available

Citations

Baker M, Nature 442: 916-919, 2006
Gass J, Human Molecular Genetics 15: 2988-3001, 2006
Lindquist S, Clinical Genetics 76: 205-209, 2009
Yu CE, Archives of Neurology 67: 161-170, 2010

Citation Details

Added: August 24, 2006
Last Modified: May 26, 2010

ID: 275