IthaID: 28
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -28 (A>C) | HGVS Name: | HBB:c.-78A>C |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
AGGGCAGGAGCCAGGGCTGGGCATA [A/C] AAGTCAGGGCAGAGCCATCTATTGC (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
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: | Kurdish, Spanish |
| Molecular mechanism: | TATAA box (HBB) |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Poncz M, Ballantine M, Solowiejczyk D, Barak I, Schwartz E, Surrey S, beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box., The Journal of biological chemistry, 257(11), 5994-6, 1982
- Gamarra S, Garcia-Effron G, Monteserin C, Lopez-Villar I, Gilsanz F, Martinez-Lopez J, beta-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C --> T/-28 A --> C., Adv Hematol, 2009(0), 476342, 2009
Created on 2010-06-16 16:13:14,
Last reviewed on 2022-06-10 12:52:24 (Show full history)
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