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  Domain Name: Ig
Immunoglobulin domain. Ig: immunoglobulin (Ig) domain found in the Ig superfamily. The Ig superfamily is a heterogenous group of proteins, built on a common fold comprised of a sandwich of two beta sheets. Members of this group are components of immunoglobulin, neuroglia, cell surface glycoproteins, such as, T-cell receptors, CD2, CD4, CD8, and membrane glycoproteins, such as, butyrophilin and chondroitin sulfate proteoglycan core protein. A predominant feature of most Ig domains is a disulfide bridge connecting the two beta-sheets with a tryptophan residue packed against the disulfide bond.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 527
Total Disease Mutations Found: 147
This domain occurred 292 times on human genes (631 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, 1CC
  CARDIOMYOPATHY, DILATED, 1G
  CARDIOMYOPATHY, DILATED, 1KK
  CARDIOMYOPATHY, DILATED, 1MM
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4
  CD8 DEFICIENCY, FAMILIAL
  COLORECTAL CANCER, SOMATIC
  CONGENITAL SHORT BOWEL SYNDROME
  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
  HEMOCHROMATOSIS, 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
  INCLUDED
  JACKSON-WEISS SYNDROME
  JACKSON-WEISS SYNDROME, INCLUDED
  JACKSON-WEISS SYNDROME, INCLUDED;;
  MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
  NARCOLEPSY 7
  NEPHROTIC SYNDROME, TYPE 1
  OSTEOGLOPHONIC DYSPLASIA
  PFEIFFER SYNDROME
  PFEIFFER SYNDROME, INCLUDED
  PFEIFFER SYNDROME, INCLUDED;;
  PFEIFFER SYNDROME, TYPE III
  PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO, INCLUDED;;
  PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO,
  RADIN BLOOD GROUP ANTIGEN
  SCAPHOCEPHALY AND AXENFELD-RIEGER AN
  SCIANNA BLOOD GROUP SYSTEM, SC:-1,2
  SCIANNA BLOOD GROUP SYSTEM, STAR ANTIGEN
  TO
  VARIANT OF UNKNOWN SIGNIFICANCE


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   Protein ID            Protein Position