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  Domain Name: Neur_chan_LBD
Neurotransmitter-gated ion-channel ligand binding domain. This family is the extracellular ligand binding domain of these ion channels. This domain forms a pentameric arrangement in the known structure.

Total Mutations Found: 57
Total Disease Mutations Found: 33
This domain occurred 45 times on human genes (89 proteins).



  DEFICIENCY
  EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIB
  ESCOBAR SYNDROME
  FEBRILE SEIZURES, FAMILIAL, 8
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY
  HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE
  HYPEREKPLEXIA 2
  INSOMNIA
  MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
  MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, INCLUDED
  MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR
  MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
  MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
  MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL, AUTOSOMAL RECESSIVE
  TO


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Neur_chan_LBD













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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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