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PARK7 Lys175Glu Mutation Details

(Table Legend)

Gene

PARK7

Name

g.33851A>G (relative to nt1 in AL034417.14)
g.28354A>G (relative to nt1 in NG_008271.1)

Alias

Lys175Glu

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From AAG to GAG

Details

Genomic

cDNA

Protein

Observed

g.33851A>G

Predicted

c.523A>G

p.K175E

Region

EX7

CDS

Phenotype

(Pathogenic nature unclear)
Mean of Mean Onset Ages: 63.0y

Frequency

1 Family

Function

No Functional data available

Citations

Nuytemans K, Hum Mutat Epub: , 2009

Citation Details

Added: August 1, 2009

ID: 483



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