Fig. 4.

Mapping of pathogenic variants onto the MMAB structure. Sites of frequent and novel missense variants have been depicted onto all three subunits of the MMAB homotrimer (PDB code: 6D5K). (a) Top view. (b) Side view of a trimeric interface of chains A and B containing AdoCbl. (c) Side view of a trimeric interface of chains B and C containing ATP. (d) Zoom in from (b) to show interaction of Ala127 and Val209. (e) Zoom in from (b) to show residues involved in AdoCbl binding. (f) Zoom in from (c) to show residues involved in ATP binding