L597HfsX4_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 :
p.Arg243Cys a paternally inherited c.727C>T variant resulting in p.Arg243Cys and a maternally inherited duplication resulting ina frameshift and early stop codon p.Leu597Hisfs*4 in PREPL (NM 006036.4).

References (1)

Title : Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions - Monnens_2024_JCI.Insight__e179276
Author(s) : Monnens Y , Theodoropoulou A , Rosier K , Bhalla K , Mahy A , Vanhoutte R , Meulemans S , Cavani E , Antanasijevic A , Lemmens I , Lee JA , Spellicy CJ , Schroer RJ , Maselli RA , Laverty CG , Agostinis P , Pagliarini DJ , Verhelst S , Marcaida MJ , Rochtus A , Dal Peraro M , Creemers JW
Ref : JCI Insight , : , 2024
Abstract :
PubMedSearch : Monnens_2024_JCI.Insight__e179276
PubMedID: 39078710
Gene_locus related to this paper: human-PREPL