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Variant

HbS β6 Glu→Val Variant

HbS β6 Glu→Val Variant

The HBB missense variant that produces sickle hemoglobin: glutamate is replaced by valine at mature beta-globin residue 6 (often described as p.Glu7Val using precursor numbering).

Overview

EXPLORE BY LEVEL

This DNA change alters one building block in . The changed can stick together more readily when oxygen is low, but a person's outcome depends on which HBB they inherit and other factors.

Quick Facts

AT A GLANCE
TopicHeredity & Cell Division

Follow the Connections

See how HbS β6 Glu→Val Variant links to other biological records.

Open network
GeneHBBhas alleleProteinBeta-globinchanges sequence ofMolecular complexHemoglobin Scontributes subunit to
All 3 Structured Connections
HBB · GeneHAS ALLELE →HbS β6 Glu→Val Variant · Variant
HbS β6 Glu→Val Variant · VariantCHANGES SEQUENCE OF →Beta-globin · Protein
HbS β6 Glu→Val Variant · VariantCONTRIBUTES SUBUNIT TO →Hemoglobin S · Molecular complex

Recommended Reading

Trusted references for learning more about HbS β6 Glu→Val Variant.

databaseHBB hemoglobin subunit beta (Gene ID 3043)NCBI Gene databaseHemoglobin subunit beta (P68871)UniProtKB articleDetermination of deoxyhemoglobin S polymer in sickle erythrocytes upon deoxygenationNoble et al. · PMID 6933568
Research Claims

Variant nomenclature differs by mature-protein versus precursor numbering. Polymerization kinetics depend on deoxy-HbS concentration, oxygen saturation, pH, and interacting hemoglobin species; this record does not predict individual severity or malaria protection.