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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2022-06-10 12:52:24 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2022-06-10 12:52:24 | The IthaGenes Curation Team | Reviewed. Origin and Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07