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  Domain Name: IGc2
Immunoglobulin C-2 Type.
No pairwise interactions found for the domain IGc2

Total Mutations Found: 371
Total Disease Mutations Found: 117
This domain occurred 214 times on human genes (493 proteins).



  ACHONDROPLASIA
  AND CATARACTS
  ANTLEY-BIXLER SYNDROME WITHOUT GENI
  ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STE
  AORTIC ANEURYSM, FAMILIAL THORACIC 7 (AAT7)
  BLOOD GROUP--OK
  CARDIOMYOPATHY, DILATED, 1G
  CARDIOMYOPATHY, DILATED, 1KK
  CARDIOMYOPATHY, DILATED, 1MM
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, INCLUDED;;
  CRANIOSYNOSTOSIS, NONCLASSIFIABLE AUTOSOMAL DOMINANT, INCLUDED;;
  CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
  CROUZON SYNDROME
  CROUZON SYNDROME, INCLUDED
  ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
  ESOPHAGEAL CARCINOMA, SOMATIC
  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
  IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON
  JACKSON-WEISS SYNDROME
  JACKSON-WEISS SYNDROME, INCLUDED
  JACKSON-WEISS SYNDROME, INCLUDED;;
  LEFT VENTRICULAR NONCOMPACTION 10, I
  MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
  MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBS SYNDROME (MASA)
  OSTEOGLOPHONIC DYSPLASIA
  PFEIFFER SYNDROME
  PFEIFFER SYNDROME, INCLUDED
  PFEIFFER SYNDROME, INCLUDED;;
  ROBINOW SYNDROME, AUTOSOMAL RECESSIVE
  SCAPHOCEPHALY AND AXENFELD-RIEGER AN
  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 IGc2






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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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