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This article is part of the supplement: Tenth International Conference on Bioinformatics. First ISCB Asia Joint Conference 2011 (InCoB/ISCB-Asia 2011): Computational Biology

Open Access Proceedings

A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation

Thi Huynh1, Javed Mohammed Khan1 and Shoba Ranganathan12*

Author Affiliations

1 Department of Chemistry and Biomolecular Sciences and ARC center of excellence in Bioinformatics, Macquarie University, NSW 2109, Australia

2 Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, 8 Medical Drive, Singapore 117597

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BMC Genomics 2011, 12(Suppl 3):S22  doi:10.1186/1471-2164-12-S3-S22

Published: 30 November 2011

Additional files

Additional File 1:

Figure S1. Mapping inherited mutations in β-mannosidase onto its secondary structure. Profile alignment of the four WT sequences to the template (PDB ID: 2JE8) sequence is shown. All the sequences are numbered accordingly. The secondary structural elements of the enzyme were mapped onto the profile alignment prior to mutational mapping. The catalytic nucleophiles of the enzyme are highlighted in dark green and the binding site residues are in light green. Residues in blue belong to the TIM barrel. Mutations are positioned on the secondary structure above the mutational residue from the alignment. Truncations are shown in red and substitutions are in pink.

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Additional File 2:

Table S1. List of inherited mutations in β-mannosidase from human (H), goat (G) and cow (C). The positional changes in the MANBA gene sequence and their consequences on the protein structure are listed. Also listed are the typical phenotypic effects (disease symptoms) of the mutation and the age of onset amongst the individuals.

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