Figure 2.

AGPAT2 gene variants described so far and sequence alignment of patient number 2. (A) Schematic gene structure of AGPAT2 gene, filled boxes indicate exons and in between lines introns: various mutations of AGPAT2 described so far, novel mutations described in this manuscript are inscribed in rectangular boxes (upper panel). (B) Lower panel indicate AGPAT2 aminoacid sequence alignment in humans and other mammalians. The arrow points at the position of the missense variant at arginine residue 159 (p.Arg159Cys) found in patient number 2 which resides in a highly conserved region.