Identification of mutation-prone points in bile salt export pump.

BACKGROUND: The bile salt export pump mediates uphill canalicular bile acid secretion. Inherited dysfunction of the bile salt export pump causes a progressive and a benign form of familial intrahepatic cholestasis. Mutations within the bile salt export pump gene are reported. Presently, prediction of protein nanostructure and function is a great challenge in the proteomics and structural genomics era. Identification of the point vulnerable to mutation is a new trend to expand knowledge on disorders at the genomic and proteomic level of diseases.
MATERIALS AND METHODS: A bioinformatic analysis was performed to study the positions that determine peptide motifs in the amino acid sequence of the bile salt export pump. To identify the weak linkage in bile salt export pump, a new bioinformatic tool named GlobPlot was used.
RESULTS: The positions 16-34, 119-127, 451-459, 550-561, 1084-1099, 1108-1118, 1135-1140, 1211-1217, and 1314-1321 were identified as the positions prone to mutation.
CONCLUSION: Based on this study, the weak linkages in the bile salt export pump can be identified and can provide good information for expectation of possible new mutations that can lead to cross species jumping. In addition, the results from this study provide useful information for further research on the bile salt export pump.