" /> HBB NP_000509.1:p.E122Q - CISMeF





Preferred Label : HBB NP_000509.1:p.E122Q;

NCIt synonyms : HBB E122Q; HBB p.E122Q; HBB Glu122Gln; HBB p.Glu122Gln; Hemoglobin Subunit Beta E122Q; Hemoglobin Subunit Beta Glu122Gln; Hemoglobin Beta Chain E122Q; NP_000509.1:p.E122Q; Hemoglobin Beta Chain Glu122Gln; NP_000509.1:p.Glu122Gln; Beta-Globin E122Q; Beta-Globin Glu122Gln; Hemoglobin D Variant; HBB E121Q; HBB Glu121Gln; Hemoglobin Subunit Beta E121Q; HBB Hemoglobin D; Hemoglobin Subunit Beta Glu121Gln; HBB NP_000509.1:p.Glu122Gln;

NCIt definition : A change in the amino acid residue at position 122 in the hemoglobin subunit beta protein where glutamic acid has been replaced by glutamine.;

NCIt note : This variant is often reported in the literature as Glu121Gln but that numbering does not include the initiator methionine, which is post-translationally removed during hemoglobin synthesis.;

NCI Metathesaurus CUI : CL1779183;

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Keyword's position in hierarchy(ies) : arborescence

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15/05/2024


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