FUS His517Gln Mutation Details

(Table Legend)

Gene

FUS

Name

g.11194C>G (relative to Met1 in NG_012889.1)
g.16277C>G (relative to nt1 in NG_012889.1)

Alias

His517Gln

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CAC to CAG

Details

Genomic

cDNA

Protein

Observed

g.16277C>G

Predicted

c.1551C>G

p.H517Q

Region

EX15

CDS

C-Term

Notes

Causes disease in autosomal recessive manner; observed in heterozygous state in asymptomatic individuals and one control individual

Phenotype

Amyotrophic Lateral Sclerosis
Mean of Mean Onset Ages: 45.0y

Frequency

1 Family

Function

No Functional data available

Citations

Kwiatkowski TJ Jr, Science 323: 1205-1208, 2009

Citation Details

Added: November 5, 2009

ID: 520