Figure 3: Conservation of the mutated threonine (Thr) residue and expression studies at the mRNA level of MBOAT1 in the patient and his father. (a) Results of ConSurf32 analysis of the Thr257 region. Color intensity denotes conservation, “e” and “b” denote predicted exposed and buried residues, and “f” and “s” denote predicted functional and structural residues. (b) The amino acid sequence of Thr257 is highly conserved across mammals. (c) Expression studies at the mRNA level of MBOAT1 by qRT-PCR analysis in the patient and his father. The mRNA expression analyzed by qRT-PCR was quantified as a ratio relative to GAPDH and expressed relative to their farther. **P < 0.01. MBOAT1: membrane-bound O-acyltransferase domain-containing 1; qRT-PCR: quantitative reverse transcription PCR; GAPDH: glyceraldehyde-3-phosphate dehydrogenase.