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  Domain Name: Ig_Myotilin_C_like
Immunoglobulin (Ig)-like domain of myotilin, palladin, and myopalladin. Ig_Myotilin_like_C: immunoglobulin (Ig)-like domain in myotilin, palladin, and myopalladin. Myotilin, palladin, and myopalladin function as scaffolds that regulate actin organization. Myotilin and myopalladin are most abundant in skeletal and cardiac muscle; palladin is ubiquitously expressed in the organs of developing vertebrates and plays a key role in cellular morphogenesis. The three family members each interact with specific molecular partners: all three bind to alpha-actinin; in addition, palladin also binds to vasodilator-stimulated phosphoprotein (VASP) and ezrin, myotilin binds to filamin and actin, and myopalladin also binds to nebulin and cardiac ankyrin repeat protein (CARP).
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 36
Total Disease Mutations Found: 6
This domain occurred 51 times on human genes (93 proteins).



  AORTIC ANEURYSM, FAMILIAL THORACIC 7 (AAT7)
  CARDIOMYOPATHY, DILATED, 1G
  CARDIOMYOPATHY, DILATED, 1KK
  CARDIOMYOPATHY, DILATED, 1MM
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED
  CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Ig_Myotilin_C_like






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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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