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  Domain Name: I-set
Immunoglobulin I-set domain.

Total Mutations Found: 522
Total Disease Mutations Found: 170
This domain occurred 189 times on human genes (453 proteins).



  ACHONDROPLASIA
  AND CATARACTS
  ANTLEY-BIXLER SYNDROME WITHOUT GENI
  ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STE
  ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS,
  AORTIC ANEURYSM, FAMILIAL THORACIC 7 (AAT7)
  BLOOD GROUP--OK
  CARDIOMYOPATHY, DILATED 1MM (CMD1MM)
  CARDIOMYOPATHY, DILATED, 1CC
  CARDIOMYOPATHY, DILATED, 1G
  CARDIOMYOPATHY, DILATED, 1KK
  CARDIOMYOPATHY, DILATED, 1MM
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 4 (CMH4)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, INCLUDED;;
  CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4
  COLORECTAL CANCER, SOMATIC
  CONGENITAL SHORT BOWEL SYNDROME
  CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT, INCLUDED;;
  CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
  CROUZON SYNDROME
  CROUZON SYNDROME, INCLUDED
  ESOPHAGEAL CARCINOMA, SOMATIC
  GASTRIC CANCER, SOMATIC, INCLUDED
  GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
  HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION,
  HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS (HSAS)
  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
  INCLUDED
  JACKSON-WEISS SYNDROME
  JACKSON-WEISS SYNDROME, INCLUDED
  JACKSON-WEISS SYNDROME, INCLUDED;;
  LEFT VENTRICULAR NONCOMPACTION 10, I
  LETHAL CONGENITAL CONTRACTURE SYNDROME 4
  MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
  MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBS SYNDROME (MASA)
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 4
  NEPHROTIC SYNDROME, TYPE 1
  OSTEOGLOPHONIC DYSPLASIA
  OVARIAN CANCER, SOMATIC
  PFEIFFER SYNDROME
  PFEIFFER SYNDROME, INCLUDED
  PFEIFFER SYNDROME, INCLUDED;;
  PFEIFFER SYNDROME, TYPE III
  ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
  SCAPHOCEPHALY AND AXENFELD-RIEGER AN
  THREE M SYNDROME 2
  TO
  TRIGONOCEPHALY 1
  UROFACIAL SYNDROME 2
  VARIANT OF UNKNOWN SIGNIFICANCE
  VESICOURETERAL REFLUX 2 (VUR2)


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for I-set





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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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