" /> HBB NP_000509.1:p.E122K - CISMeF





Preferred Label : HBB NP_000509.1:p.E122K;

NCIt synonyms : HBB Hemoglobin O (Arab); HBB Glu121Lys; Hemoglobin Subunit Beta E122K; Hemoglobin Beta Chain E122K; NP_000509.1:p.E122K; Hemoglobin Subunit Beta Glu121Lys; Hemoglobin O-Arab Variant; Beta-Globin E122K; HBB NP_000509.1:p.Glu122Lys; Hemoglobin O (Arab) Variant; HBB Glu122Lys; HBB E121K; HBB p.Glu122Lys; Hemoglobin Subunit Beta Glu122Lys; Hemoglobin Subunit Beta E121K; Hemoglobin Beta Chain Glu122Lys; NP_000509.1:p.Glu122Lys; HBB Hemoglobin O-Arab; Beta-Globin Glu122Lys; HBB E122K; HBB p.E122K;

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: A change in the amino acid residue at position 122 in the hemoglobin subunit beta protein where glutamic acid has been replaced by lysine.;

NCIt note : This variant is often reported in the literature as Glu121Lys but that numbering does not include the initiator methionine, which is post-translationally removed during hemoglobin synthesis.;

NCI Metathesaurus CUI : CL935927;

Details


Keyword's position in hierarchy(ies) : arborescence

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30/05/2025


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