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Location of SPTLC1 Ser331, Gln333, and Ala339 residues and Miztli-predicted impact of SPTLC1 p.Ser331Phe, p.Gnl333Arg and p.Ala339Thr variants on the structure and interactions within the SPT enzymatic complex. (A) Location of SPTLC1 Ser331, Gln333, and Ala339 residues at the interface between SPTLC1, SPTLC2,and ORMDL3, and near the PLP binding site. (B) Impact of SPTLC1 p.Ser331Phe variant. (C) Impact of SPTLC1 p.Gln333Arg variant. (D) Impact of SPTLC1 p.Ala339Thr variant.
