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  Domain Name: Bestrophin
Bestrophin, RFP-TM, chloride channel. Bestrophin is a 68-kDa basolateral plasma membrane protein expressed in retinal pigment epithelial cells (RPE). It is encoded by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterized by a depressed light peak in the electrooculogram. VMD2 encodes a 585-amino acid protein with an approximate mass of 68 kDa which has been designated bestrophin. Bestrophin shares homology with the Caenorhabditis elegans RFP gene family, named for the presence of a conserved arginine (R), phenylalanine (F), proline (P), amino acid sequence motif. Bestrophin is a plasma membrane protein, localised to the basolateral surface of RPE cells consistent with a role for bestrophin in the generation or regulation of the EOG light peak. Bestrophin and other RFP family members represent a new class of chloride channels, indicating a direct role for bestrophin in generating the light peak. The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family. More than 97% of the disease-causing mutations are located in the N-terminal RFP-TM domain implying important functional properties. The bestrophins are four-pass transmembrane chloride-channel proteins, and the RFP-TM or bestrophin domain extends from the N-terminus through approximately 350 amino acids and contains all of the TM domains as well as nearly all reported disease causing mutations. Interestingly, the RFP motif is not conserved evolutionarily back beyond Metazoa, neither is it in plant members.
No pairwise interactions found for the domain Bestrophin

Total Mutations Found: 22
Total Disease Mutations Found: 21
This domain occurred 3 times on human genes (5 proteins).



  BEST MACULAR DYSTROPHY
  BEST VITELLIFORM MACULAR DYSTROPHY, MULT
  BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCA
  BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
  BESTROPHINOPATHY, AUTOSOMAL RECESSIVE, INCLUDED;;
  MACULOPATHY, BULL'S-EYE
  MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA
  RETINITIS PIGMENTOSA 50
  RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
  VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
  VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED
  VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED;;
  VITREORETINOCHOROIDOPATHY


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   Protein ID            Protein Position

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No Conserved Features/Sites Found for Bestrophin



















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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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