case_images: PMC2635369_01
case_images: Conservation of mutations sites. ClustalW alignment of human LPH protein and LPH proteins from other species showing the conservation of the region for mutations V565fsX567 (A), S688P (B), R1587H (C) and E1612X (C).
case_images: 1471-230X-9-8-1.jpg
case_images: PMC2635369_01_1471-230X-9-8-1.jpg
case_images: F1
case_images: Using ClustalW analysis, both mutations were located in the conserved site (Figure 1). The deletion was located in the conserved region of the LCT gene (Figure 1) and was predicted to lead to truncated protein due to a change in the reading frame. Using the ClustalW alignment program the amino acid was shown to be conserved (Figure 1).