GRN Gln130fs Mutation Details

(Table Legend)

Gene

GRN

Name

g.1102_1105delCAGT (relative to Met1 in Reverse Complement of AC003043.1)
g.10144_10147delCAGT (relative to nt1 in NG_007886.1)

Alias

Gln130fs

Description

Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay

Codon Change

From CAG... to TCG...

dbSNP ID

rs63749801

Details

Genomic

cDNA

Protein

Observed

g.1102_1105delCAGT

Predicted

c.388_391delCAGT

p.Q130SfsX125

Region

EX5

CDS

GranF

Notes

This is the same mutation as GRN g.1098_1101delTAGT on different allelic background of SNP rs25646

Phenotype

Frontotemporal Lobar Degeneration
Mean of Mean Onset Ages: 64.2y
Mean of Mean Ages at Death: 68.0y

Frequency

8 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
Finch N, Brain 132: 583-591, 2009
Carecchio M, Journal of the Neurological Sciences 287: 291-293, 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: 272