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  Domain Name: Presenilin
Presenilin. Mutations in presenilin-1 are a major cause of early onset Alzheimer's disease. It has been found that presenilin-1 binds to beta-catenin in-vivo. This family also contains SPE proteins from C.elegans.
No pairwise interactions found for the domain Presenilin

Total Mutations Found: 49
Total Disease Mutations Found: 41
This domain occurred 2 times on human genes (5 proteins).



  ALZHEIMER DISEASE, FAMILIAL, 3
  ALZHEIMER DISEASE, FAMILIAL, 3, WITH SPASTIC PARAPARESIS AND APRAXIA
  ALZHEIMER DISEASE, FAMILIAL, 3, WITH UNUSUAL PLAQUES
  ALZHEIMER DISEASE, FAMILIAL, 4
  ALZHEIMER DISEASE, FAMILIAL, 4, INCLUDED
  ALZHEIMER DISEASE, FAMILIAL, WITH SPASTIC PARAPARESIS AND UNUSUAL
  CARDIOMYOPATHY, DILATED, 1U
  CARDIOMYOPATHY, DILATED, 1V
  DEMENTIA, FRONTOTEMPORAL
  PICK DISEASE OF BRAIN
  PLAQUES
  PLAQUES, INCLUDED


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 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 Presenilin

















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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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