Schematic plan of SH3PXD2B (TKS4) protein showing all mutations identified to date and their location in relation to domains defined by PROSITE (prosite.expasy.org). Note the extent of the deletion identified in this family. A deletion of the entire encoding SH3PXD2B gene has also been reported in another affected family .
Bendon et al. BMC Medical Genetics 2012 13:104 doi:10.1186/1471-2350-13-104