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  Domain Name: Neur_chan_memb
Neurotransmitter-gated ion-channel transmembrane region. This family includes the four transmembrane helices that form the ion channel.

Total Mutations Found: 56
Total Disease Mutations Found: 33
This domain occurred 45 times on human genes (92 proteins).



  DEFICIENCY
  EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
  EPILEPSY, NOCTURNAL FRONTAL LOBE, 3
  EPILEPSY, NOCTURNAL FRONTAL LOBE, 4
  EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1
  ESCOBAR SYNDROME
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
  HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT
  MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
  MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR
  MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
  MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Neur_chan_memb

















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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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