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  Domain Name: SPEC
Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; the repeats are independent folding units; tandem repeats are found in differing numbers and arrange in an antiparallel manner to form dimers; the repeats are defined by a characteristic tryptophan (W) residue in helix A and a leucine (L) at the carboxyl end of helix C and separated by a linker of 5 residues; two copies of the repeat are present here
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 287
Total Disease Mutations Found: 120
This domain occurred 27 times on human genes (74 proteins).



  ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
  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
  KERATOSIS PALMOPLANTARIS STRIATA II
  PYROPOIKILOCYTOSIS, HEREDITARY
  SKIN FRAGILITY-WOOLLY HAIR SYNDROME
  SPECTRIN PROVIDENCE
  SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT
  SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
linker region
















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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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