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  Domain Name: Ig_C5_MyBP-C
C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C). Ig_C5_MyBP_C : the C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C). MyBP_C consists of repeated domains, Ig and fibronectin type 3, and various linkers. Three isoforms of MYBP_C exist and are included in this group: cardiac(c), and fast and slow skeletal muscle (s) MyBP_C. cMYBP_C has insertions between and inside domains and an additional cardiac-specific Ig domain at the N-terminus. For cMYBP_C an interaction has been demonstrated between this C5 domain and the Ig C8 domain.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 6
Total Disease Mutations Found: 3
This domain occurred 43 times on human genes (78 proteins).



  CARDIOMYOPATHY, DILATED, 1KK
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4
  GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Ig_C5_MyBP-C







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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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