Home News About DMDM Database Statistics Research Publications Contact  

 
  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


Tips:
 If you've navigated here from a protein, hovering over a position on the weblogo will display the corresponding protein position for that domain position.

 The histograms below the weblogo indicate mutations found on the domain. Red is for disease (OMIM) and blue is for SNPs.

 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for COG5022