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 - databases for immunodeficiency-causing variations

   AIREbase
   Variation registry for  Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED)


AIREbase mutation types

AIREbase mutation types

The number of analyzed patients
Missense46
Nonsense125
Deletion frameshift74
Deletion undefined1
Insertion frameshift23
Splice site frameshift1
Splice site undefined5
Total275
  
The number of unrelated patients
Missense34
Nonsense109
Deletion frameshift61
Deletion undefined1
Insertion frameshift16
Splice site frameshift1
Splice site undefined3
Total225
This site is updated by Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 17.04.2024