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 |
Context nucleotide sequence:
AGGGCAGGAGCCAGGGCTGGGCATA [A/C/G] 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: | African-American, Southeast Asians |
| Molecular mechanism: | TATAA box (HBB) |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- 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
Created on 2010-06-16 16:13:14,
Last reviewed on 2020-01-17 11:11:19 (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 | 2019-11-04 11:18:23 | The IthaGenes Curation Team | Reviewed. Reference list reviewed. |
| 4 | 2019-11-04 11:18:53 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2020-01-17 11:11:19 | The IthaGenes Curation Team | Reviewed. Reference added |
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IthaGenes was last updated on 2024-04-18 10:10:45