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. Author manuscript; available in PMC: 2014 Apr 1.
Published in final edited form as: Nat Genet. 2013 Sep 8;45(10):1226–1231. doi: 10.1038/ng.2754

Figure 2. Recurrent PAX5 mutations in ALL.

Figure 2

a. Gene schematic of PAX5 showing the exons (upper grey numbers), amino acid residues (lower grey numbers), protein domains (as denoted by colored legend) and position of the germline p.Gly183Ser variant (in red) in relation to the somatic PAX5 mutations described in this study (n=13, arrows) and somatic mutations described previously in B-ALL1,2,20. Primary leukemic samples with confirmed retention of the germline p.Gly183Ser variant denoted by the square shape (Family 1) and diamond shape (Family 2). In one case of i(9)/dic(9) ALL, we found both a heterozygous Val26Gly and a heterozygous Gln350fs mutation, indicating polyclonality of the tumor. b. Conservation of the octapeptide domain in selected PAX family members.

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