GRN Cys31fs Mutation Details

(Table Legend)

Gene

GRN

Name

g.90_91insCTGC (relative to Met1 in Reverse Complement of AC003043.1)
g.9132_9133insCTGC (relative to nt1 in NG_007886.1)

Alias

Cys31fs

Description

Tetranucleotide insertion in coding region causing frameshift and premature translation termination, resulting in nonsense-mediated mRNA decay

Codon Change

From TGC... to CTG...

dbSNP ID

rs63751057

Details

Genomic

cDNA

Protein

Observed

g.90_91insCTGC

c.0

p.0

Predicted

c.90_91insCTGC

p.C31LfsX35

Region

EX2

CDS

ParaGran

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 57.9y
Mean of Mean Ages at Death: 64.5y

Frequency

6 Families

Function

No Functional data available

Citations

Baker M, Nature 442: 916-919, 2006
Gass J, Human Molecular Genetics 15: 2988-3001, 2006
Beck J, Brain 131: 706-720, 2008
Rohrer JD, Archives of Neurology 65: 506-513, 2008
Rohrer JD, Neurology 73: 1451-1456, 2009
Yu CE, Archives of Neurology 67: 161-170, 2010
Rohrer JD, Neuroimage 53: 1070-1076, 2010

Citation Details

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

ID: 271