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Results for the Protein: Q9NRG9
20137527

AAAS_HUMAN RecName: Full=Aladin; AltName: Full=Adracalin

Known Diseases associated with this Protein:
  ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
  ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (AAAS)
  ACHALASIA-ALACRIMA SYNDROME
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1
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Default View:

WD40 - cd00200
WD40 - smart00320


Swiss-Prot Protein: Q9NRG9
Identical to: NP_056480
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
WD40cd002000.0001142481
WD40smart003200.00016232273

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012804Diseasep.GLN15LYSAchalasia-addisonianism-alacrima syndrome (AAAS)
Swiss-ProtVAR_012805Diseasep.HIS160ARGAchalasia-addisonianism-alacrima syndrome (AAAS)
Swiss-ProtVAR_037060Polymorphismp.LYS108METN/A
Swiss-ProtVAR_012806Diseasep.SER263PROAchalasia-addisonianism-alacrima syndrome (AAAS)
OMIM605378.0001 Diseasep.ARG312TERACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
OMIM605378.0002 Diseasep.ARG478TERACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
OMIM605378.0006 Diseasep.GLN15LYSACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
OMIM605378.0009 Diseasep.LEU430PHEACHALASIA-ALACRIMA SYNDROME
OMIM605378.0007 Diseasep.SER263PROACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME



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