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.(Lys698Asn). a c.1528C>T (p.(Arg510Ter)) nonsense mutation and a c.2094G>T pseudo-missense variant, which, simultaneously with a p.(Lys698Asn) amino acid substitution, affects splicing, leading to exon 14 skipping in mRNA
| Title : A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings - Shchagina_2020_Genes.(Basel)_11_821 |
| Author(s) : Shchagina O , Bessonova L , Bychkov I , Beskorovainaya T , Poliakov A |
| Ref : Genes (Basel) , 11 :821 , 2020 |
| Abstract : Shchagina_2020_Genes.(Basel)_11_821 |
| ESTHER : Shchagina_2020_Genes.(Basel)_11_821 |
| PubMedSearch : Shchagina_2020_Genes.(Basel)_11_821 |
| PubMedID: 32707643 |
| Gene_locus related to this paper: human-PREPL |