" /> HBB NP_000509.1:p.E7V - CISMeF





Preferred Label : HBB NP_000509.1:p.E7V;

NCIt synonyms : HBB E7V; HBB p.E7V; Hemoglobin Beta Chain Glu7Val; NP_000509.1:p.Glu7Val; Beta-Globin Glu7Val; Hemoglobin Subunit Beta E7V; Hemoglobin Beta Chain E7V; NP_000509.1:p.E7V; Beta-Globin E7V; HBB Glu6Val; Hemoglobin Subunit Beta Glu6Val; HBB E6V; Hemoglobin S Variant; Hemoglobin Subunit Beta E6V; HBB NP_000509.1:p.Glu7Val; HBB Glu7Val; HBB p.Glu7Val; HBB Hemoglobin S; Hemoglobin Subunit Beta Glu7Val; Hemoglobin Beta S Variant;

NCIt definition : A change in the amino acid residue at position 7 in the hemoglobin subunit beta protein where glutamic acid has been replaced by valine.;

NCIt note : This variant is often reported in the literature as Glu6Val (E6V) but that numbering does not include the initiator methionine, which is post-translationally removed during hemoglobin synthesis.;

NCI Metathesaurus CUI : CL935920;

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Keyword's position in hierarchy(ies) : arborescence

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15/05/2024


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