Q291X_human-PPT1

General

Gene Locus : human-PPT1

Mode of mutation : Natural mutant

Disease : Infantile neuronal ceroid lipofuscinosis

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.(Gln291Ter) c.871C>T Exon9 CM993457

References (1)

Title : Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis - Waliany_2000_Hum.Mutat_15_206
Author(s) : Waliany S , Das AK , Gaben A , Wisniewski KE , Hofmann SL
Ref : Hum Mutat , 15 :206 , 2000
Abstract :
PubMedSearch : Waliany_2000_Hum.Mutat_15_206
PubMedID: 10649502
Gene_locus related to this paper: human-PPT1