loading...| Preferred Name |
Hemoglobin S |
|
| Synonyms |
Hemoglobin S Hb S Hgb S |
|
| Definitions |
A tetrameric complex of 2 molecules of hemoglobin subunit alpha (encoded by either the HBA1 or HBA2 gene) and 2 molecules of a hemoglobin subunit beta variant where the glutamic acid residue at position 7 has been replaced by valine. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C172950 |
|
| code |
C172950 |
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| DEFINITION |
A tetrameric complex of 2 molecules of hemoglobin subunit alpha (encoded by either the HBA1 or HBA2 gene) and 2 molecules of a hemoglobin subunit beta variant where the glutamic acid residue at position 7 has been replaced by valine. |
|
| DesignNote |
This hemoglobin subunit beta 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. |
|
| FULL_SYN |
Hemoglobin S Hb S Hgb S |
|
| label |
Hemoglobin S |
|
| Preferred_Name |
Hemoglobin S |
|
| prefixIRI |
Thesaurus:C172950 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Amino Acid, Peptide, or Protein |
|
| UMLS_CUI |
C3888302 |
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| subClassOf |