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  Domain Name: Ldl_recept_b
Low-density lipoprotein receptor repeat class B. This domain is also known as the YWTD motif after the most conserved region of the repeat. The YWTD repeat is found in multiple tandem repeats and has been predicted to form a beta-propeller structure.
No pairwise interactions found for the domain Ldl_recept_b

Total Mutations Found: 45
Total Disease Mutations Found: 35
This domain occurred 14 times on human genes (34 proteins).



  CENANI-LENZ SYNDACTYLY SYNDROME
  CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2
  DONNAI-BARROW SYNDROME
  ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT
  EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT
  EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
  EXUDATIVE VITREORETINOPATHY 4, DIGENIC
  FH FRENCH CANADIAN 2
  FH KUWAIT
  FH NAPLES
  HIGH BONE MASS
  OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
  OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, INCLUDED;;
  OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
  OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, INCLUDED
  OSTEOSCLEROSIS, AUTOSOMAL DOMINANT
  SCLEROSTEOSIS 2
  VAN BUCHEM DISEASE, TYPE 2,
  VARIANT OF UNKNOWN SIGNIFICANCE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Ldl_recept_b






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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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