C331LfsX55_human-CTSA

General

Gene Locus : human-CTSA

Mode of mutation : Natural mutant

Disease : Galactosialidosis

Summary :

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.C331LfsX55 Cys331LeufsTer55 insertion of a C at nucleotide position 899 (1044) give a frameshift and a truncated protein found in a homozygote patient as well as in a compound heterozygote with G85S

References (1)

Title : New mutations in two Dutch patients with early infantile galactosialidosis - Groener_2003_Mol.Genet.Metab_78_222
Author(s) : Groener J , Maaswinkel-Mooy P , Smit V , van der Hoeven M , Bakker J , Campos Y , d'Azzo A
Ref : Mol Genet Metab , 78 :222 , 2003
Abstract : Groener_2003_Mol.Genet.Metab_78_222
ESTHER : Groener_2003_Mol.Genet.Metab_78_222
PubMedSearch : Groener_2003_Mol.Genet.Metab_78_222
PubMedID: 12649068
Gene_locus related to this paper: human-CTSA