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  Domain Name: T-box
T-box. The T-box encodes a 180 amino acid domain that binds to DNA. Genes encoding T-box proteins are found in a wide range of animals, but not in other kingdoms such as plants. Family members are all thought to bind to the DNA consensus sequence TCACACCT. they are found exclusively in the nucleus, and perform DNA-binding and transcriptional activation/repression roles. They are generally required for development of the specific tissues they are expressed in, and mutations in T-box genes are implicated in human conditions such as DiGeorge syndrome and X-linked cleft palate, which feature malformations.
No pairwise interactions found for the domain T-box

Total Mutations Found: 24
Total Disease Mutations Found: 18
This domain occurred 14 times on human genes (23 proteins).



  ATRIAL SEPTAL DEFECT 4
  CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
  HOLT-ORAM SYNDROME
  SMALL PATELLA SYNDROME
  ULNAR-MAMMARY SYNDROME
  VELOCARDIOFACIAL SYNDROME


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for T-box










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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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