Figure 1.
Schematic representation of structural and functional domains of tyrosine kinase 2 (TYK2) protein with the non-synonymous variants detected in this study (functional characterised variants in black; artificial mutant controls in blue: kinase-dead form of the protein (TYK2 K930R) and the catalytically hyperactive form (TYK2 V678F). Boxes illustrate functional domains from N- to C-terminus and the corresponding Janus kinase (JAK) structural homology domains (JH1–JH7) are marked below. Amino acid numbers are shown in the lower bar scale according to the human TYK2 protein sequence (RefSeq: NM_003331.4; FERM domain: 26–431, SH2 domain: 452–551, pseudokinase domain: 551–875, and kinase domain: 897–1176).