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(A) Mutations with severe clinical symptoms are near the binding site for DPM (dipyrromethane) cofactor at active site on the crystal structure of human HMBS enzyme (5M7F). (B) (C) Residue A173 and R149 interacts with the DPM cofactor (5M7F) and reaction intermediate (5M6R) at atomic level in the HMBS protein structure by the Residue Interaction Network Generator (RING) software.
