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  Domain Name: Myotub-related
Myotubularin-related. This family represents a region within eukaryotic myotubularin-related proteins that is sometimes found with pfam02893. Myotubularin is a dual-specific lipid phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bi-phosphate. Mutations in gene encoding myotubularin-related proteins have been associated with disease.
No pairwise interactions found for the domain Myotub-related

Total Mutations Found: 11
Total Disease Mutations Found: 6
This domain occurred 14 times on human genes (26 proteins).



  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
  MYOTUBULAR MYOPATHY, X-LINKED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Myotub-related









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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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