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. 2013 Dec 19;8(12):e84147. doi: 10.1371/journal.pone.0084147

Figure 1. Mutations of the EZH2-SET domain.

Figure 1

(a) The amino acid sequence of the EZH2-SET domain is shown with the secondary structure assignments depicted above. Residues which coordinate zinc are underlined. Mutated amino acids identified in association with disease are highlighted cyan. The specific mutations are annotated below with the disease-associated with each mutation, the nature of the mutation, and the reference in which the mutation is described. The sequence is numbered in accordance with EZH2 isoform A and the numbering for some mutations has been transposed from the original references so that all mutations can be referred to relative to the same sequence. (b) Details of mutations delineated in Figure 1a. (Abbreviations: AMKL, acute megakaryoblastic leukemia; AML, acute myeloid leukemia; AMML, acute myelomonocytic leukemia; CMML, chronic myelomonocytic leukemia; DLBCL, diffuse large B-cell lymphoma; ETP ALL, early T-cell precursor acute lymphoblastic leukemia; MDS, myelodysplastic syndrome; MPN, myeloproliferative neoplasms; MPNu, myeloproliferative neoplasms unclassifiable; NB, neuroblastoma; MF, myelofibrosis; RCMD, refractory cytopenia with multilineage dysplasia; WS, Weaver Syndrome; fs, frameshift; X, nonsense).