Home News About DMDM Database Statistics Research Publications Contact  

 
Click for a Larger Image
  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


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