IthaID: 29
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -28 (A>G) | HGVS Name: | HBB:c.-78A>G |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
AGGGCAGGAGCCAGGGCTGGGCATA [A>G] AAGTCAGGGCAGAGCCATCTATTGC (Strand: -)
Comments: Genotype-phenotype association studies identified this variant as a contributor to γ-globin reactivation, a finding further validated in HUDEP-2 and CD34⁺ cells. Functionally, the variant was shown to disrupt TBP binding sites in the adult HBB promoter TATA box, thereby enhancing interactions between the LCR and HBG promoters.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70517 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | African-American, Southeast Asians |
| Molecular mechanism: | TATAA box (HBB) |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Sequence Viewer
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Frequencies
Publications / Origin
- Orkin SH, Sexton JP, Cheng TC, Goff SC, Giardina PJ, Lee JI, Kazazian HH, ATA box transcription mutation in beta-thalassemia., Nucleic acids research, 11(14), 4727-34, 1983 PubMed
- Lou JW, Li Q, Wei XF, Huang JW, Xu XM, Identification of the linkage of a 1.357 KB beta-globin gene deletion and A gamma-globin gene triplication in a Chinese family., Hemoglobin, 34(4), 343-53, 2010 PubMed
- Song M, Wei X, Luo H, Wang J, Ye Y, Qin L, Niu C, Long Y, Wang X, Shao C, Yu M, Gu F, Zhang X, Xu X, A common TBP-binding site mutation elevates γ-globin levels by competitive globin switching change in β-thalassemia., Blood Adv, 2025 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2025-05-05 08:56:09 (Show full history)
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