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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
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. |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-11-20 13:24:07