rs35834416
This is a variant in the HBB gene that changes a tyrosine to an aspartate.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Eigenschaften des instabilen Hb WienCase reportEnno Kleihauer et al.(1972)· Klinische Wochenschrift
Characterization of Hb Wien, an unstable hemoglobin variant identified in 1966 with a tyrosine-to-aspartic acid substitution at position 130 of the β-globin chain. The variant shows minimal spontaneous oxidation and normal methemoglobin spectrum compared to other unstable variants, with heat denaturation properties similar to normal HbA1 when in cyanmethemoglobin form.
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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