Short description of the BTKbase :
Defects in the Bruton tyrosine kinase (BTK) gene cause X-linked agammaglobulinemia. Agammaglobulinemia is characterized by failure to produce mature B lymphocyte cells. Two thirds of cases are familial, and one third of cases are believed to arise from new variations. Variations of the BTK gene are found in approximately 80% of patients with agammaglobulinemia.
Our other bioinformatics services:
SH2base - Database for pathogenic SH2 domain variations
KinMutBase - A registry of disease-causing variations in protein kinase domains