HBB NP_000509.1:p.E27K

Preferred Label : HBB NP_000509.1:p.E27K;

NCIt synonyms : Hemoglobin Beta Chain E27K; Beta-Globin Glu27Lys; HBB E26K; NP_000509.1:p.Glu27Lys; Hemoglobin Beta E Variant; Hemoglobin Subunit Beta Glu27Lys; Hemoglobin E Variant; HBB p.Glu27Lys; Beta-Globin E27K; HBB Glu27Lys; NP_000509.1:p.E27K; Hemoglobin Subunit Beta E27K; HBB NP_000509.1:p.Glu27Lys; HBB p.E27K; HBB E27K; HBB Hemoglobin E; Hemoglobin Beta Chain Glu27Lys; HBB Glu26Lys;

NCIt definition : A change in the amino acid residue at position 27 in the hemoglobin subunit beta protein where glutamic acid has been replaced by lysine.;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 Glu26Lys (E26K) but that numbering does not include the initiator methionine, which is post-translationally removed during hemoglobin synthesis.;

NCI Metathesaurus CUI : CL1773724;

Details

Origin ID

C185537;

UMLS CUI

C5669980;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_variant_of_gene_product
- Hemoglobin Subunit Beta [NCIt concept]
is_abnormality_of_gene_product
- Hemoglobin E [NCIt concept]
is_molecular_abnormality_of_disease
- Hemoglobin E Disease [NCIt concept]
molecular_abnormality_involves_gene
- HBB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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