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  Domain Name: IgC_Tapasin_R
Tapasin-R immunoglobulin-like domain. IgC_Tapasin_R: Immunoglobulin-like domain on Tapasin-R. Tapasin is a V-C1 (variable-constant) immunoglobulin superfamily molecule present in the endoplasmic reticulum (ER), where it links MHC class I molecules to the transporter associated with antigen processing (TAP). Tapasin-R is a tapasin-related protein that contains similar structural motifs to Tapasin, with some marked differences, especially in the V domain, transmembrane and cytoplasmic regions. The majority of Tapasin-R is located within the ER; however, there may be some expression of Tapasin-R at the cell surface. Tapasin-R lacks an obvious ER retention signal.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 40
Total Disease Mutations Found: 14
This domain occurred 16 times on human genes (34 proteins).



  ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
  HEMOCHROMATOSIS, TYPE 1
  PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO, INCLUDED;;
  PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO,


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
dimer interface











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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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