GRN Ala9Asp Mutation Details

(Table Legend)

Gene

GRN

Name

g.26C>A (relative to Met1 in Reverse Complement of AC003043.1)
g.9068C>A (relative to nt1 in NG_007886.1)

Alias

Ala9Asp

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GCC to GAC

dbSNP ID

rs63751243

Details

Genomic

cDNA

Protein

Observed

g.26C>A

c.0

Predicted

c.26C>A

p.A9D

Region

EX2

CDS

Signal peptide

Phenotype

Frontotemporal Dementia / Primary Progressive Aphasia
Mean of Mean Onset Ages: 55.0y
Mean of Mean Ages at Death: 63.4y

Frequency

5 Families

Function

No Functional data available

Citations

Mukherjee O, Annals of Neurology 60: 314-322, 2006
Gass J, Human Molecular Genetics 15: 2988-3001, 2006
Spina S, Journal of Neuropathology and Experimental Neurology 66: 892-900, 2007
Ghetti B, Neurodegenerative Diseases 5: 215-217, 2008
Mukherjee O, Human Mutation 29: 512-521, 2008
Spina S, Alzheimer's & Dementia 4 Supp 2: T431, 2008
Kelley BJ, Neurobiology of Aging 30: 739-751, 2009

Citation Details

Added: September 7, 2006
Last Modified: July 27, 2009

ID: 281