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  Domain Name: HNF-1B_C
Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus. This family consists of a region found within the alpha isoform and at the C terminus of the beta isoform of the homeobox-containing transcription factor of HNF-1. Different isoforms of HNF-1 are generated by the differential use of polyadenylation sites and by alternative splicing. The C-terminal region of HNF-1 is responsible for the activation of transcription. Mutations and polymorphisms in HNF-1 cause the type 3 form of maturity-onset diabetes of the young (MODY3).
No pairwise interactions found for the domain HNF-1B_C

Total Mutations Found: 6
Total Disease Mutations Found: 5
This domain occurred 2 times on human genes (5 proteins).



  DIABETES MELLITUS, NONINSULIN-DEPENDENT
  DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO
  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for HNF-1B_C













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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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