rs33918338
This is a variant in the HBB gene that changes a histidine to an arginine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Chloride Masks Effects of Opposing Positive Charges in Hb A and Hb Hinsdale (β139 Asn → Lys) that can Modulate Cooperativity as well as Oxygen AffinityFunctionalCelia Bonaventura et al.(1994)· Journal of Molecular Biology
A functional study of hemoglobin variants showing that chloride ions mask the effects of opposing positive charges in the central cavity. Hb Hinsdale (β139 Asn → Lys) exhibits greatly increased oxygen affinity and lower cooperativity than Hb A in chloride-free buffers, with log P50 difference of 1.12 between Hepes and bis-Tris/chloride conditions. The study also characterized Hb Deer Lodge (β2 His → Arg) and Hb Abruzzo (β143 His → Arg) variants.
About HBB
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
View all HBB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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