C152Y_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.Cys152Tyr c.455G>A Exon 5 CM034889 rs386833647

References (1)

Title : Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency - Kalviainen_2007_Eur.J.Neurol_14_369
Author(s) : Kalviainen R , Eriksson K , Losekoot M , Sorri I , Harvima I , Santavuori P , Jarvela I , Autti T , Vanninen R , Salmenpera T , van Diggelen OP
Ref : Eur Journal of Neurology , 14 :369 , 2007
Abstract :
PubMedSearch : Kalviainen_2007_Eur.J.Neurol_14_369
PubMedID: 17388982
Gene_locus related to this paper: human-PPT1