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  Domain Name: Ion_trans_2
Ion channel. This family includes the two membrane helix type ion channels found in bacteria.

Total Mutations Found: 82
Total Disease Mutations Found: 43
This domain occurred 63 times on human genes (137 proteins).



  DEAFNESS, AUTOSOMAL DOMINANT 2A
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
  EPISODIC ATAXIA, TYPE 1
  JERVELL AND LANGE-NIELSEN SYNDROME 1
  LONG QT SYNDROME 1
  LONG QT SYNDROME 1/2, DIGENIC, INCLUDED
  LONG QT SYNDROME 2
  PULMONARY HYPERTENSION, PRIMARY, 4
  RETINAL CONE DYSTROPHY 3B
  SEIZURES, BENIGN FAMILIAL NEONATAL, 1
  SHORT QT SYNDROME 1
  SHORT QT SYNDROME 2
  SPINOCEREBELLAR ATAXIA 19
  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Ion_trans_2







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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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