GRN Val5Leu Mutation Details

(Table Legend)

Gene

GRN

Name

g.13G>C (relative to Met1 in Reverse Complement of AC003043.1)
g.9055G>C (relative to nt1 in NG_007886.1)

Alias

Val5Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From GTG to CTG

Details

Genomic

cDNA

Protein

Observed

g.13G>C

Predicted

c.13G>C

p.V5L

Region

EX2

CDS

Signal peptide

Notes

Observed in 1 familial FTD-MND patient, no segregation

Phenotype

? (Pathogenic nature unclear)
Mean of Mean Onset Ages: 63.0y
Mean of Mean Ages at Death: 65.0y

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: 405