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Domain structure and the location of mutations in the human MAFB protein. Each position indicates the amino acid substitution of the observed mutations in patients where mutations were previously reported for multicentric carpotarsal osteolysis (MCTO) and Duane syndrome. The osteolysis disorder MCTO is known to be caused by a dominant missense mutation in the transactivation domain. A mutation in the zinc finger DNA-binding domain of MafB may also cause DRS.
