Gene Locus : No gene locus
Mode of mutation : Natural mutant
Disease :
Summary : Natural mutation Congenital myasthenic syndrome associated with endplate AChE deficiency (Type Ic).No attachment to NMJ No asymetric A12 forms Donger_1998_Am.J.Hum.Genet_63_967
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction : Endplate Acetylcholinesterase deficiency\; EAD
Interact Gene Locus : human-collq
Xenobiotic sensitivity :
Modification : Congenital myasthenic syndrome || Natural mutation
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.Tyr430Ser
| Title : Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic) - Donger_1998_Am.J.Hum.Genet_63_967 |
| Author(s) : Donger C , Krejci E , Serradell AP , Eymard B , Bon S , Nicole S , Chateau D , Gary F , Fardeau M , Massoulie J , Guicheney P |
| Ref : American Journal of Human Genetics , 63 :967 , 1998 |
| Abstract : Donger_1998_Am.J.Hum.Genet_63_967 |
| ESTHER : Donger_1998_Am.J.Hum.Genet_63_967 |
| PubMedSearch : Donger_1998_Am.J.Hum.Genet_63_967 |
| PubMedID: 9758617 |