IthaID: 1515
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Turkish (δβ)0 | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: Turkish type 3 (δβ)0
Comments: The 30 kb deletion removes the δ- and β-globin genes. The 5' breakpoint is about 1.5 kb downstream of an enhancer-like sequence of the Aγ-globin gene and the 3' breakpoint is located in the L1 repeat sequence (KpnI site) 3' to the β-globin gene. The deletion is similar to that of the Indian type of (δβ)0-thal with a comparable 5' breakpoint but a 3' breakpoint which is 2.5 kb shorter.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | GγAγ(δβ)0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | 30 kb |
| Deletion involves: | δ, β, pseudo β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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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Publications / Origin
- Oner R, Oner C, Erdem G, Balkan H, Ozdağ H, Erkan M, Gümrük F, Gürgey A, Altay C, A novel (delta beta)(0)-thalassemia due to a approximately 30-kb deletion observed in a Turkish family., Acta haematologica, 96(4), 232-6, 1996 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2019-09-27 09:53:43 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-09-27 09:53:43 | The IthaGenes Curation Team | Reviewed. Comment and Synonym name added. |
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IthaGenes was last updated on 2024-04-18 10:10:45