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  Domain Name: PSN
Presenilin, signal peptide peptidase, family. Presenilin 1 and presenilin 2 are polytopic membrane proteins, whose genes are mutated in some individuals with Alzheimer's disease. Distant homologues, present in eukaryotes and archaea, also contain conserved aspartic acid residues which are predicted to contribute to catalysis. At least one member of this family has been shown to possess signal peptide peptidase activity.
No pairwise interactions found for the domain PSN

Total Mutations Found: 71
Total Disease Mutations Found: 59
This domain occurred 7 times on human genes (14 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, WITH SPASTIC PARAPARESIS AND UNUSUAL
  CARDIOMYOPATHY, DILATED, 1U
  PICK DISEASE OF BRAIN
  PLAQUES
  PLAQUES, INCLUDED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for PSN























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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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