GRN Arg493X Mutation Details

(Table Legend)

Gene

GRN

Name

g.3240C>T (relative to Met1 in Reverse Complement of AC003043.1)
g.12282C>T (relative to nt1 in NG_007886.1)

Alias

Arg493X

Description

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

Codon Change

From CGA to TGA

dbSNP ID

rs63751294

Details

Genomic

cDNA

Protein

Observed

g.3240C>T

Predicted

c.1477C>T

p.R493X

Region

EX12

CDS

GranD

Phenotype

Frontotemporal Lobar Degeneration
Mean of Mean Onset Ages: 56.7y
Mean of Mean Ages at Death: 63.2y

Frequency

43 Families

Function

No Functional data available

Citations

Huey ED, Annals of Neurology 60: 374-380, 2006
Gass J, Human Molecular Genetics 15: 2988-3001, 2006
Pickering-Brown SM, Brain 129: 3124-3216, 2006
Mesulam M, Archives of Neurology 64: 43-47, 2007
Spina S, Neurology 68: 820-827, 2007
Van Deerlin VM, Archives of Neurology 64: 1148-1153, 2007
Davion S, Neurology 69: 1113-1121, 2007
Rademakers R, The Lancet Neurology 6: 857-868, 2007
Ghetti B, Neurodegenerative Diseases 5: 215-217, 2008
Spina S, Alzheimer's & Dementia 4 Supp 2: T431, 2008
Kelley BJ, Neurobiology of Aging 30: 739-751, 2009
Rohrer JD, Neuropsychologia 48: 288-297, 2010
Yu CE, Archives of Neurology 67: 161-170, 2010

Citation Details

Added: September 8, 2006
Last Modified: October 22, 2010

ID: 297