frequency of missense mutations in ALDP

Functionally important regions in a protein should contain more missense mutations than regions of less importance. In order to identify these important regions in ALDP, the frequency of missense mutations identified per 50 amino acid interval, from the amino terminus to the carboxy terminus, is plotted in this graph. The graph is an updated version from the one published by Smith et al., (1999) Neurochem. Res. 24:521-535. In the 1999 graph, we did the calculation for 107 missense mutations. If the mutations were distributed randomly throughout the protein, each interval should contain 6.7% of the total number of missense mutation. The graph clearly demonstrated that this is not the case. Two regions in the transmembrane domain and the ABC region contain the majority of missense mutations, stressing the importance of these regions for the function of ALDP.

This picture may be used for scientific presentations; however, the source (www.x-ald.nl) should be indicated clearly. For more information and questions please contact Stephan Kemp (updated December 2007).

Last update: 03-Mar-2009