L535X_human-PREPL

General

Gene Locus : human-PREPL

Mode of mutation : Natural mutant

Disease : Myasthenic syndrome, congenital, 22\; CMS22

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 :
In a male patient (IPD3) with congenital myasthenic syndrome-22 (CMS22\; 616224), Regal et al. (2018) detected compound heterozygosity for a deletion and a nonsense mutation in the PREPl gene. The nonsense mutation was a c.1604T-G transversion (c.1604T-G, NM_001171603.1) in exon 10 that resulted in a leu535-to-ter (L535X) substitution.

References (1)

Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109
Author(s) : Regal L , Martensson E , Maystadt I , Voermans N , Lederer D , Burlina A , Juan Fita MJ , Hoogeboom AJM , Olsson Engman M , Hollemans T , Schouten M , Meulemans S , Jonson T , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM
Ref : Genet Med , 20 :109 , 2018
Abstract :
PubMedSearch : Regal_2018_Genet.Med_20_109
PubMedID: 28726805
Gene_locus related to this paper: human-PREPL