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  Domain Name: SPEC
Spectrin repeats.
No pairwise interactions found for the domain SPEC

Total Mutations Found: 197
Total Disease Mutations Found: 93
This domain occurred 25 times on human genes (75 proteins).



  ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL
  BECKER MUSCULAR DYSTROPHY
  DUCHENNE MUSCULAR DYSTROPHY
  ELLIPTOCYTOSIS 2
  ELLIPTOCYTOSIS 2, INCLUDED
  ELLIPTOCYTOSIS 3
  ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA
  ELLIPTOCYTOSIS 3, INCLUDED
  INTERMEDIATE MUSCULAR DYSTROPHY
  PYROPOIKILOCYTOSIS, HEREDITARY
  SPECTRIN PROVIDENCE
  SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT
  SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE
  SPINOCEREBELLAR ATAXIA 5
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
  VARIANT OF UNKNOWN SIGNIFICANCE


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 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 SPEC














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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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