Combination of Synonymous and Missense Mutations in JAK3 Gene Contributes to Severe Combined Immunodeficiency in One Child

Figure 1

Schematic diagram for JAK3 and landscape of point mutations. JAK3 contains 4 important domains, FERM, SH2, JH2, and JH1. There are 7 JAK homology (JH) domains scattered across the protein that form the 4 critical domains. The reported 57 point mutations in JAK3 are shown over the diagram. The variants reported are shown in black, and the variant identified in this study is in red. The four JAK3 domains are FERM (four-point-one, ezrin, radixin, moesin homology domain, 24-356 bp), SH2 (src-homology 2, 375-475 bp), JH2 (Janus homology2, 521-781 bp, pseudokinase domain), and JH1 (822-1111 bp, tyrosine kinase domain).