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  Domain Name: COG5022
Myosin heavy chain [Cytoskeleton]
No pairwise interactions found for the domain COG5022

Total Mutations Found: 397
Total Disease Mutations Found: 191
This domain occurred 33 times on human genes (56 proteins).



  AORTIC ANEURYSM, FAMILIAL THORACIC 4
  ARTHROGRYPOSIS, DISTAL, 2B (DA2B)
  ARTHROGRYPOSIS, DISTAL, TYPE 2A
  ARTHROGRYPOSIS, DISTAL, TYPE 2B
  ARTHROGRYPOSIS, DISTAL, TYPE 2B, INCLUDED
  ATRIAL SEPTAL DEFECT 3
  CARDIOMYOPATHY, DILATED 1EE (CMD1EE)
  CARDIOMYOPATHY, DILATED 1S (CMD1S)
  CARDIOMYOPATHY, DILATED, 1EE
  CARDIOMYOPATHY, DILATED, 1S
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 1 (CMH1)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 14 (CMH14)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
  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, 11 (DFNA11)
  DEAFNESS, AUTOSOMAL DOMINANT, 22 (DFNA22)
  DEAFNESS, AUTOSOMAL DOMINANT, 48 (DFNA48)
  DEAFNESS, AUTOSOMAL RECESSIVE 2
  DEAFNESS, AUTOSOMAL RECESSIVE 3
  DEAFNESS, AUTOSOMAL RECESSIVE 30
  DEAFNESS, AUTOSOMAL RECESSIVE 37
  DEAFNESS, AUTOSOMAL RECESSIVE, 2 (DFNB2)
  DEAFNESS, AUTOSOMAL RECESSIVE, 37 (DFNB37)
  DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY
  DEAFNESS, SENSORINEURAL, WITH HYPERTROPHIC CARDIOMYOPATHY (DFNHCM)
  DEAFNESS, WITH SMITH-MAGENIS SYNDROME
  DIARRHEA 2, WITH MICROVILLUS ATROPHY (DIAR2)
  EPSTEIN SYNDROME
  EPSTEIN SYNDROME, INCLUDED
  EPSTEIN SYNDROME, INCLUDED;;
  FECHTNER SYNDROME
  FECHTNER SYNDROME, INCLUDED
  FECHTNER SYNDROME, INCLUDED;;
  FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
  FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 (FSGS6)
  LAING DISTAL MYOPATHY
  LEFT VENTRICULAR NONCOMPACTION 5
  LEFT VENTRICULAR NONCOMPACTION 5, INCLUDED
  MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INCLUD
  MAY-HEGGLIN ANOMALY
  MAY-HEGGLIN ANOMALY (MHA)
  MAY-HEGGLIN ANOMALY, INCLUDED
  MICROVILLUS INCLUSION DISEASE
  MYOPATHY, DISTAL, 1 (MPD1)
  PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
  SCAPULOPERONEAL MYOPATHY MYH7-RELATED (SPMM)
  SEBASTIAN SYNDROME
  SEBASTIAN SYNDROME (SBS)
  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 COG5022



















































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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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