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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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 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



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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