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  Domain Name: Ldl_recept_a
Low-density lipoprotein receptor domain class A.
No pairwise interactions found for the domain Ldl_recept_a

Total Mutations Found: 78
Total Disease Mutations Found: 35
This domain occurred 38 times on human genes (76 proteins).



  1
  CENANI-LENZ SYNDACTYLY SYNDROME
  CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION
  COMPLEMENT FACTOR I DEFICIENCY
  DEAFNESS, AUTOSOMAL RECESSIVE 8
  EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
  FH AFRIKANER 1
  FH AFRIKANER 3
  FH DENVER 2
  FH DRUZE
  FH FRENCH CANADIAN 3
  FH GLASCO
  FH LONDON 3
  FH MAINE
  FH MEXICO
  FH PORTUGAL
  FH PUERTO RICO
  HYPERCHOLESTEROLEMIA, FAMILIAL
  IRON-REFRACTORY IRON DEFICIENCY ANEMIA
  PREECLAMPSIA/ECLAMPSIA 5
  SCLEROSTEOSIS 2 (SOST2)


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Ldl_recept_a






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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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