BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and Ahead

BTKbase is an international database for disease-causing variants in Bruton tyrosine kinase (BTK) leading to X-linked agammaglobulinemia (XLA), a rare primary immunodeficiency of antibody production. was established 1994 as one the first publicly available variation databases. The number cases has more than doubled since last update; it now contains information 2310 DNA 2291 individuals. 1025 are unique. human genome 500 protein kinases, among which BTK largest unique variants. current version numerous novel features: been reformatted, moved LOVD management system, internally harmonized, etc. Systematics and standardization have increased, including Variation Ontology annotations types. There some regions with lower expected frequency hotspots variations. contains, addition variant descriptions at DNA, RNA levels, also laboratory parameters clinical features many patients. served research communities diagnosis XLA provides general insight into effects variations, especially signalling pathways. Amino acid substitutions their were investigated, predicted, visualized 3D level domains. freely available.