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Schematic representation of the molecular and functional structure of the tyrosine kinase Kit (CD117), which indicated the patient’s mutations in the deduced amino acid sequence. Details are discussed in the text (Ig, immunoglobulin-like domain; TM, transmembranous domain; K1, ATP-binding region of kinase domain; KI, kinase-insert-region; K2, region of phosphorylation of kinase domain).
