Home News About DMDM Database Statistics Research Publications Contact  

 
  Domain Name: LY
Low-density lipoprotein-receptor YWTD domain. Type "B" repeats in low-density lipoprotein (LDL) receptor that plays a central role in mammalian cholesterol metabolism. Also present in a variety of molecules similar to gp300/megalin.
No pairwise interactions found for the domain LY

Total Mutations Found: 69
Total Disease Mutations Found: 44
This domain occurred 14 times on human genes (36 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 GENOA
  FH KUWAIT
  FH NAPLES
  FH SAINT OMER
  HIGH BONE MASS
  HYPOMAGNESEMIA 4 (HOMG4)
  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


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

Domain Position:  


No Conserved Features/Sites Found for LY






Weblogos are Copyright (c) 2002 Regents of the University of California




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.

   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258