Multiple alignment of complete sequences from the BBS proteins with 28 novel mutations.
This corresponds to the extensive analysis of 12 BBS genes within a cohort of 174 families. BBS mutations were found in 134 of them, reporting 89 mutations of which 28 are novel mutations.
The multiple alignment can be viewed using the Jalview applet by clicking on "Start Jalview" and then saved under many different formats.
- When possible, aligned sequences cover metazoan organisms from Caenorhabditis elegans to Homo sapiens.
- Sequence accession numbers are mostly from UniProt (http://www.uniprot.org) and from RefSeq
(http://www.ncbi.nih.gov/RefSeq). Predicted sequences from genomes are named using the following format "pred_[Name of subfamily]_[Name of organism]".
ex: pred_BBS12_Cfamiliaris corresponds to the predicted BBS12 protein sequence for the dog (Canis familiaris).
- The new mutations published in this study are in blue (Feature "NewMutation"). If you do not see any of the blue feature please make sure that "feature view" is enabled in the "View" menu. To enable/disable any of the features please go into the menu "View" then "Feature Settings..." and make your choice.
- The complete list of organisms and their aliases are described here.