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. 2024 Jun 6;19:226. doi: 10.1186/s13023-024-03220-y

Fig. 4.

Fig. 4

Position of candidate disease-causing variants in protein domains. (A) Structure of human PAX3 protein with functional domains. PD, paired domain; O, octapeptide motif; HD, homeodomain; TA, transactivation domain. (B) Structure of human MITF protein with functional domains. TAD, transactivation domain; b-HLH-Zip, basic helix-loop-helix leucine zipper. (C) Structure of human SOX10 protein with functional domains. Dim, dimerization domain; HMG, high-mobility group; K2, K2 domain; TA, transactivation domain