GRN Gln337X Mutation Details

(Table Legend)

Gene

GRN

Name

g.2461C>T (relative to Met1 in Reverse Complement of AC003043.1)
g.11503C>T (relative to nt1 in NG_007886.1)

Alias

Gln337X

Description

Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay

Codon Change

From CAG to TAG

dbSNP ID

rs63751406

Details

Genomic

cDNA

Protein

Observed

g.2461C>T

Predicted

c.1009C>T

p.Q337X

Region

EX10

CDS

InterAC

Phenotype

Frontotemporal Lobar Degeneration
Mean of Mean Onset Ages: 62.0y

Frequency

2 Families

Function

No Functional data available

Citations

Van Deerlin VM, Archives of Neurology 64: 1148-1153, 2007
Yu CE, Archives of Neurology 67: 161-170, 2010

Citation Details

Added: September 4, 2007
Last Modified: May 26, 2010

ID: 376