PMC:5420355 / 29492-30351 JSONTXT

{"project":"2_test","denotations":[{"id":"28475857-24390350-2044982","span":{"begin":84,"end":86},"obj":"24390350"},{"id":"28475857-20601953-2044983","span":{"begin":88,"end":90},"obj":"20601953"},{"id":"28475857-22237151-2044984","span":{"begin":92,"end":94},"obj":"22237151"},{"id":"28475857-24052547-2044985","span":{"begin":96,"end":98},"obj":"24052547"},{"id":"28475857-24362818-2044986","span":{"begin":100,"end":102},"obj":"24362818"},{"id":"28475857-25693834-2044987","span":{"begin":104,"end":106},"obj":"25693834"},{"id":"28475857-24052547-2044988","span":{"begin":180,"end":182},"obj":"24052547"},{"id":"28475857-24362818-2044989","span":{"begin":184,"end":186},"obj":"24362818"},{"id":"28475857-24052547-2044990","span":{"begin":486,"end":488},"obj":"24052547"},{"id":"28475857-20601953-2044991","span":{"begin":773,"end":775},"obj":"20601953"},{"id":"28475857-22237151-2044992","span":{"begin":777,"end":779},"obj":"22237151"},{"id":"28475857-24052547-2044993","span":{"begin":781,"end":783},"obj":"24052547"}],"text":"Somatic mutations in HIST1H1E, EZH2, and DNMT3A occur in hematological malignancies.26, 46, 47, 48, 49, 50 HIST1H1E and EZH2 mutations are each present in ∼20% of B cell lymphomas.48, 49 Somatic HIST1H1E mutations are nonsynonymous mutations throughout the gene and do not include the clustered PTVs that cause OGID (Figure 5). EZH2 mutations in B cell lymphomas are often activating nonsynonymous mutations in the SET domain, the majority of which target a single amino acid, p.Tyr646.48 Nonsynonymous mutations at this residue have not been detected in OGID and are not present in ExAC, perhaps suggesting that germline EZH2 mutations altering p.Tyr646 are not compatible with life (Figure 5). Inactivating EZH2 mutations are present in myeloid malignancies and in T-ALL.46, 47, 48 A proportion of these latter mutations overlap with EZH2 mutations in OGID."}