L222P_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.(Leu222Pro) c.665T>C Exon 7 rs386833661 CM023969

References (4)

Title : Computational and structural investigation of Palmitoyl-Protein Thioesterase 1 (PPT1) protein causing Neuronal Ceroid Lipofuscinoses (NCL) - Thirumal Kumar_2022_Adv.Protein.Chem.Struct.Biol_132_89
Author(s) : Thirumal Kumar D , Shaikh N , Udhaya Kumar S , George Priya Doss C
Ref : Advances in Protein Chemistry Struct Biol , 132 :89 , 2022
Abstract :
PubMedSearch : Thirumal Kumar_2022_Adv.Protein.Chem.Struct.Biol_132_89
PubMedID: 36088080
Gene_locus related to this paper: human-PPT1

Title : Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy - Santorelli_2013_Orphanet.J.Rare.Dis_8_19
Author(s) : Santorelli FM , Garavaglia B , Cardona F , Nardocci N , Bernardina BD , Sartori S , Suppiej A , Bertini E , Claps D , Battini R , Biancheri R , Filocamo M , Pezzini F , Simonati A
Ref : Orphanet J Rare Dis , 8 :19 , 2013
Abstract :
PubMedSearch : Santorelli_2013_Orphanet.J.Rare.Dis_8_19
PubMedID: 23374165
Gene_locus related to this paper: human-PPT1

Title : Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations - Simonati_2009_Pediatr.Neurol_40_271
Author(s) : Simonati A , Tessa A , Bernardina BD , Biancheri R , Veneselli E , Tozzi G , Bonsignore M , Grosso S , Piemonte F , Santorelli FM
Ref : Pediatr Neurol , 40 :271 , 2009
Abstract :
PubMedSearch : Simonati_2009_Pediatr.Neurol_40_271
PubMedID: 19302939
Gene_locus related to this paper: human-PPT1

Title : A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis - Mazzei_2002_J.Neurol_249_1398
Author(s) : Mazzei R , Conforti FL , Magariello A , Bravaccio C , Militerni R , Gabriele AL , Sampaolo S , Patitucci A , Di Iorio G , Muglia M , Quattrone A
Ref : Journal of Neurology , 249 :1398 , 2002
Abstract :
PubMedSearch : Mazzei_2002_J.Neurol_249_1398
PubMedID: 12382155
Gene_locus related to this paper: human-PPT1