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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


Tips:
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 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:  


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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