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

Figure 3

Mapping of BTK variants to domain structures: (a) positions of XLA-causing variants in BTK domains, (b) numbers of predicted pathogenic variations obtained with PON-P2, and (c) numbers of predicted mild/moderate and (d) predicted severe XLA-causing variants according to PON-PS in BTK domain structures. (b–d) All 19 variations in each position were predicted, and there is a scale describing the colours. The domains are, from left to right, PH, SH3, SH2, and kinase domain. The PDB structures used were 1btk for PH [63], 1awx for SH3 [64], 2ge9 for SH2 [65], and 5p9j for the kinase domain [66]. Zn²⁺ ion in TH region in the PH domain structure is shown as a sphere and inhibitor ibrutinib in the kinase domain with yellow stick presentation.