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  Domain Name: peripherin_like_LEL
Tetraspanin, extracellular domain or large extracellular loop (LEL), peripherin_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans the extracellular domain between the 3rd and 4th trans-membrane segment. Tetraspanins are involved in diverse processes and their various functions may relate to their ability to act as molecular facilitators. Tetraspanins associate laterally with one another and cluster dynamically with numerous parnter domains in membrane microdomains, forming a network of multimolecular complexes, the "tetraspanin web". Peripherin, or RDS (retinal degradation slow) is a glycoprotein expressed in vertebrate photoreceptors, located at the rim of the disc membranes of the photoreceptor outer segments. RDS is thought to play a major role in folding and stacking of the discs. Mutations in RDS have been linked to hereditary retinal dystrophies, which typically exhibit a wide phenotypic spectrum.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 13
Total Disease Mutations Found: 11
This domain occurred 12 times on human genes (29 proteins).



  CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
  FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION
  MACULAR DYSTROPHY, PATTERNED
  MENTAL RETARDATION, X-LINKED 58
  RETINITIS PIGMENTOSA 7
  RETINITIS PIGMENTOSA 7, DIGENIC
  RETINITIS PIGMENTOSA 7, WITH BULL'S-EYE MACULOPATHY
  VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET


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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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