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  Domain Name: ig
Immunoglobulin domain. Members of the immunoglobulin superfamily are found in hundreds of proteins of different functions. Examples include antibodies, the giant muscle kinase titin and receptor tyrosine kinases. Immunoglobulin-like domains may be involved in protein-protein and protein-ligand interactions. The Pfam alignments do not include the first and last strand of the immunoglobulin-like domain.

Total Mutations Found: 255
Total Disease Mutations Found: 83
This domain occurred 221 times on human genes (450 proteins).



  ACHONDROPLASIA
  AND CATARACTS
  AORTIC ANEURYSM, FAMILIAL THORACIC 7 (AAT7)
  ATRIAL FIBRILLATION, FAMILIAL, 13
  BLEEDING DISORDER, PLATELET-TYPE, 11
  BLOOD GROUP--OK
  CARDIAC CONDUCTION DEFECT, NONSPECIFIC
  CARDIOMYOPATHY, DILATED, 1CC
  CARDIOMYOPATHY, DILATED, 1KK
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED
  COLORECTAL CANCER, SOMATIC
  CROUZON SYNDROME
  ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
  ESOPHAGEAL CARCINOMA, SOMATIC
  GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
  GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
  HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,
  HYPOCHONDROPLASIA
  HYPOCHONDROPLASIA, INCLUDED
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY
  HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
  JACKSON-WEISS SYNDROME, INCLUDED
  MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
  NEPHROTIC SYNDROME, TYPE 1
  OSTEOGLOPHONIC DYSPLASIA
  PFEIFFER SYNDROME
  TO
  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for ig







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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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