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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

Figure 4

Mapping of missense mutations onto the P. aeruginosa MCC holoenzyme structure. (A) Mapping of the novel missense mutations (yellow spheres) onto the P. aeruginosa MCC holoenzyme structure (PDB code 3U9T), showing that they are clustered in the BC domain of MCCC1 (pink) or the CT domain of MCCC2 (green). (B) and (C) Mutation sites of Asn200, Gly220, Pro224 and Gly475 are located at the interface between two MCCC2 subunits (coloured green and purple). (D) Structural environment of the MCCC1 Glu288 and Gly379 mutation sites. All the residues shown in sticks are conserved between the human and P. aeruginosa enzymes. The Glu288-Arg444 ionic interaction is indicated by dashed lines.

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