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  Domain Name: MYSc
Myosin. Large ATPases. ATPase; molecular motor. Muscle contraction consists of a cyclical interaction between myosin and actin. The core of the myosin structure is similar in fold to that of kinesin.
No pairwise interactions found for the domain MYSc

Total Mutations Found: 198
Total Disease Mutations Found: 93
This domain occurred 39 times on human genes (70 proteins).



  AORTIC ANEURYSM, FAMILIAL THORACIC 4
  ARTHROGRYPOSIS, DISTAL, TYPE 2A
  ARTHROGRYPOSIS, DISTAL, TYPE 2B
  ARTHROGRYPOSIS, DISTAL, TYPE 2B, INCLUDED
  CARDIOMYOPATHY, DILATED 1S (CMD1S)
  CARDIOMYOPATHY, DILATED, 1S
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 1 (CMH1)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
  CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC
  CARNEY COMPLEX VARIANT
  DEAFNESS, AUTOSOMAL DOMINANT 11
  DEAFNESS, AUTOSOMAL DOMINANT 17
  DEAFNESS, AUTOSOMAL DOMINANT 22
  DEAFNESS, AUTOSOMAL DOMINANT 4
  DEAFNESS, AUTOSOMAL DOMINANT 48
  DEAFNESS, AUTOSOMAL DOMINANT, 48 (DFNA48)
  DEAFNESS, AUTOSOMAL RECESSIVE 2
  DEAFNESS, AUTOSOMAL RECESSIVE 3
  DEAFNESS, AUTOSOMAL RECESSIVE 30
  DEAFNESS, AUTOSOMAL RECESSIVE 37
  DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY
  EPSTEIN SYNDROME
  EPSTEIN SYNDROME, INCLUDED
  EPSTEIN SYNDROME, INCLUDED;;
  FECHTNER SYNDROME
  FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
  INCLUSION BODY MYOPATHY 3
  LAING DISTAL MYOPATHY
  LEFT VENTRICULAR NONCOMPACTION 5
  LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED
  MAY-HEGGLIN ANOMALY
  MAY-HEGGLIN ANOMALY, INCLUDED
  MICROVILLUS INCLUSION DISEASE
  SEBASTIAN SYNDROME, INCLUDED;;
  SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO
  TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, INCLUDED
  USHER SYNDROME 1B (USH1B)
  USHER SYNDROME, TYPE IB
  USHER SYNDROME, TYPE IB, INCLUDED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for MYSc












































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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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