FUS Pro525Leu Mutation Details

(Table Legend)

Gene

FUS

Name

g.11217C>T (relative to Met1 in NG_012889.1)
g.16300C>T (relative to nt1 in NG_012889.1)

Alias

Pro525Leu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CCG to CTG

Details

Genomic

cDNA

Protein

Observed

g.16300C>T

Predicted

c.1574C>T

p.P525L

Region

EX15

CDS

C-Term

Phenotype

Amyotrophic Lateral Sclerosis
Mean of Mean Onset Ages: 22.0y
Mean of Mean Ages at Death: 22.5y

Frequency

1 Family

Function

No Functional data available

Citations

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

Citation Details

Added: November 6, 2009

ID: 526