Analysis of point mutations found in human SSADH enzymes as a result of missense mutations.

Bold denotes conserved residue between human SSADH and E. coli SSADH. n.d. = not determined. ADenotes non-pathogenic point mutations found in patients with SSADH deficiency. BDenotes pathogenic point mutations found in patients with SSADH deficiency. CAllelic polymorphisms found in the general population All mutations and reaction rates previously published [9], [36], [42], [60].