rs33910209

This is a variant in the HBB gene that changes a glutamine to an glutamate.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter23 publications

HEMOGLOBIN CAMDEN; HEMOGLOBIN MOTOWN; HEMOGLOBIN TOKUCHI; not specified

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Research that mentions this SNP (1)

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Is the trimodality of Hb leslie (α2β2131Gln → 0) in heterozygotes the result of a variable number of active α‐chain genes? Evidence for posttranslational control of hemoglobin synthesis
FunctionalFelice A. et al.(1978)· American Journal of Hematology

This 1978 study investigates the trimodality of hemoglobin Leslie (Hb Leslie: α₂β₂¹³¹Gln→0) in heterozygotes and examines whether it results from variable copy numbers of active alpha-chain genes. The research provides evidence for posttranslational control mechanisms in hemoglobin synthesis, analyzing how different numbers of functional alpha-chain gene copies affect hemoglobin composition and expression patterns in individuals carrying the Leslie variant.

Traits studied:Hemoglobin Leslie variantHemoglobin heterozygotes
PubMedDOIMetascience Observatory

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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