GRN Pro357fs Mutation Details

(Table Legend)

Gene

GRN

Name

g.2522delC (relative to Met1 in Reverse Complement of AC003043.1)
g.11564delC (relative to nt1 in NG_007886.1)

Alias

Pro357fs

Description

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

Codon Change

From CCA... to CAC...

Details

Genomic

cDNA

Protein

Observed

g.2522delC

Predicted

c.1070delC

p.P357HfsX4

Region

EX10

CDS

InterAC

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 44.0y
Mean of Mean Ages at Death: 51.0y

Frequency

1 Family

Function

No Functional data available

Citations

López de Munain A, Biological Psychiatry 63: 946-952, 2008

Citation Details

Added: February 14, 2008

ID: 408