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IMT Bioinformatics Group University of Tampere
Institute of Medical Technology
Bioinformatics Group 		Institute of Medical Technology

Mutation Databases

Immunodeficiency Mutation Databases:

  • ADAbase, BLMbase last updated 4 October, 1999Mutation registry for Adenosine deaminase deficiency.
  • BLMbase, Mutation registry for Bloom syndrome.
  • BTKbase,BLMbase last updated 4 October, 1999Mutation registry for X-linked agammaglobulinemia (XLA).
  • CYBAbase, Mutation registry for autosomal recessive p22 phox deficiency.
  • CYBBbase, Mutation registry for X-linked chronic granulomatous disease (XCGD).
  • CD3Ebase, Mutation registry for autosomal recessive CD3epsilon deficiency.
  • CD3Gbase, Mutation registry for autosomal recessive CD3gamma deficiency.
  • CD40Lbase, Mutation registry for X-linked hyper-IgM syndrome (XHIM).
  • JAK3base, Mutation registry for autosomal recessive severe combined JAK3 deficiency.
  • NCF1base, Mutation registry for autosomal recessive p47 phox deficiency.
  • NCF2base, Mutation registry for autosomal recessive p67 phox deficiency.
  • RAG1base,BLMbase last updated 4 October, 1999 Mutation registry for autosomal recessive severe combined RAG1 deficiency.
  • RAG2base,BLMbase last updated 4 October, 1999 Mutation registry for autosomal recessive severe combined RAG2 deficiency.
  • SH2D1Abase, Mutation registry for X-linked lymphoproliferative syndrome (XLP).
  • TCIRG1base, BLMbase last updated 4 October, 1999Mutation registry for autosomal recessive osteopetrosis (arOP).
  • ZAP70base, Mutation registry for autosomal recessive severe combined ZAP70 deficiency.
Other Databases: Database Staff: Database Curators:

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Last update by Jouni Väliaho