1. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation
by Yinzhu Jin, Cinzia Mazza, Jacinda R. Christie, Silvia Giliani, Maurilia Fiorini, Patrizia Mella, Francesca Gandellini, Donn M. Stewart, Qili Zhu, David L. Nelson, Luigi D. Notarangelo, and Hans D. Ochs
Blood
Volume 104(13):
December 15, 2004
©2004 by American Society of Hematology

2. A schematic illustration of WASP representing the 12 exons and the major functional domains.
A schematic illustration of WASP representing the 12 exons and the major functional domains. The mutations of WASP listed in Table 1 are visualized according to their location in the exons and the exon/intron junctions. Each symbol represents a single family with a WASP mutation. Missense mutations are located mostly in exons 1 to 4; deletions and insertions are distributed throughout the WASP gene, and splice site mutations are found predominantly in introns 6, 8, 9, and 10. PH indicates pleckstrin hemology; WH1, WAS homology 1; GBD, GTPase binding domain; VD, verprolin homology domain; and CD, cofilin homology domain.
Yinzhu Jin et al. Blood 2004;104:
©2004 by American Society of Hematology