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  Domain Name: Ion_trans
Ion transport protein. This family contains Sodium, Potassium, Calcium ion channels. This family is 6 transmembrane helices in which the last two helices flank a loop which determines ion selectivity. In some sub-families (e.g. Na channels) the domain is repeated four times, whereas in others (e.g. K channels) the protein forms as a tetramer in the membrane. A bacterial structure of the protein is known for the last two helices but is not the Pfam family due to it lacking the first four helices
No pairwise interactions found for the domain Ion_trans

Total Mutations Found: 526
Total Disease Mutations Found: 311
This domain occurred 108 times on human genes (292 proteins).



  ACHROMATOPSIA 3
  ATRIAL FIBRILLATION, FAMILIAL, 10, INCLUDED
  ATRIAL FIBRILLATION, FAMILIAL, 7
  ATRIAL STANDSTILL, INCLUDED;;
  BRACHYOLMIA TYPE 3
  BRUGADA SYNDROME 1
  BRUGADA SYNDROME 1, INCLUDED;;
  CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCL
  CARDIOMYOPATHY, DILATED, 1E
  CENTRAL CORE DISEASE
  CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
  DEAFNESS, AUTOSOMAL DOMINANT 2A
  DRAVET SYNDROME
  EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6
  EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, MILD
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
  EPISODIC ATAXIA, TYPE 1
  EPISODIC ATAXIA, TYPE 2
  EPISODIC ATAXIA, TYPE 2, INCLUDED
  EPISODIC PAIN SYNDROME, FAMILIAL, 1
  EPISODIC PAIN SYNDROME, FAMILIAL, 2
  ERYTHERMALGIA, PRIMARY
  FACIES
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, INCLUDED
  HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
  HYPERKALEMIC PERIODIC PARALYSIS
  HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
  HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
  HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC
  INCLUDED;;
  INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
  LONG QT SYNDROME 2
  LONG QT SYNDROME 3
  LONG QT SYNDROME 3/6, DIGENIC, INCLUDED
  LONG QT SYNDROME, BRADYCARDIA-INDUCED
  MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
  MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1, INCLUDED
  MIGR
  MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA
  MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,
  MIGRAINE, FAMILIAL HEMIPLEGIC, 1
  MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, INCLUDED
  MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE
  MYOKYMIA 1
  MYOKYMIA 1 WITH HYPOMAGNESEMIA
  MYOTONIA CONGENITA, ATYPICAL
  MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE
  MYOTONIA, POTASSIUM-AGGRAVATED
  NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED
  NEUROPATHY, SMALL FIBER
  NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C
  NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
  NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE
  NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE
  PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC
  PARAMYOTONIA CONGENITA
  PARAMYOTONIA CONGENITA, INCLUDED
  PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
  PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS, INCLUDED
  PARASTREMMATIC DWARFISM, INCLUDED
  PAROXYSMAL EXTREME PAIN DISORDER
  PLAQUES
  POLYCYSTIC KIDNEY DISEASE 2
  PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
  PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
  RETINAL CONE DYSTROPHY 3B
  RETINITIS PIGMENTOSA 49
  ROD MONOCHROMACY
  SEIZURES, BENIGN FAMILIAL INFANTILE, 3
  SEIZURES, BENIGN FAMILIAL NEONATAL, 1
  SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA
  SEIZURES, BENIGN FAMILIAL NEONATAL, 2
  SHORT QT SYNDROME 1
  SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
  SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT
  SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR
  SPINOCEREBELLAR ATAXIA 13
  SPINOCEREBELLAR ATAXIA 19
  SPINOCEREBELLAR ATAXIA 6
  SPINOCEREBELLAR ATAXIA 6, INCLUDED
  SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
  SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
  TIMOTHY SYNDROME
  VARIANT OF UNKNOWN SIGNIFICANCE
  VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL
  VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Ion_trans















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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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