H98R_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.H98R His98Arg (in the publication p.His116Arg)

References (1)

Title : Galactosialidosis: review and analysis of CTSA gene mutations - Caciotti_2013_Orphanet.J.Rare.Dis_8_114
Author(s) : Caciotti A , Catarzi S , Tonin R , Lugli L , Perez CR , Michelakakis H , Mavridou I , Donati MA , Guerrini R , d'Azzo A , Morrone A
Ref : Orphanet J Rare Dis , 8 :114 , 2013
Abstract :
PubMedSearch : Caciotti_2013_Orphanet.J.Rare.Dis_8_114
PubMedID: 23915561
Gene_locus related to this paper: human-CTSA