" /> H3 K27M Variant - CISMeF





Preferred Label : H3 K27M Variant;

NCIt synonyms : H3 p.K28M; H3 K28M; Histone H3 K28M; H3 Lys27Met; Histone H3 Lys27Met; H3 K27M; Histone H3 K27M; H3 K28M Mutation; H3 p.Lys28Met; Histone 3 K27M Mutation; H3 Lys28Met; Histone H3 Lys28Met; H3 K27M Mutation; H3 K28M Variant; Histone 3 K28M Mutation; H3K27M Mutation;

NCIt definition : A change in the amino acid residue at position 27 in histone H3 where lysine has been replaced by methionine.;

NCIt note : Pathological mutation of histone H3 is associated with variations of the histone H3.1 (encoded by the human genes HIST1H3A through HIST1H3J) and histone H3.3 (encoded by the human genes H3F3A and H3F3B) proteins.; Even though the literature refers to lysine 27 methylation or amino acid variation/mutation, RefSeq indicates that the lysine is located at amino acid position 28 in histone H3. (see also https://link.springer.com/article/10.1007/s00401-018-1867-2);

NCI Metathesaurus CUI : CL512285;

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01/05/2024


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