IthaID: 1514
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | Macedonian/Turkish (δβ)0 | HGVS Name: | N/A |
Hb Name: | N/A | Protein Info: | N/A |
Also known as: Turkish type 2 (δβ)0 | Turkish Inv/Del (δβ)0
Comments: This inversion-deletion is characterized by a 5' deletion of 11.5 kb and a 3' deletion of 1.6 kb flanking an inverted region of DNA of 7.6 kb. The DNA sequences at the breakpoints were elucidated by cloning and sequencing.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | δβ-thalassaemia |
Allele Phenotype: | GγAγ(δβ)0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
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Locus: | NG_000007.3 |
Locus Location: | N/A |
Size: | 11.465 kb |
Deletion involves: | δ, β |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Macedonian, 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
- Ottolenghi S, Giglioni B, The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat., Nature, 300(5894), 770-1, 1982 PubMed
- Efremov GD, Nikolov N, Hattori Y, Bakioglu I, Huisman TH, The 18- to 23-kb deletion of the Macedonian delta beta-thalassemia includes the entire delta and beta globin genes., Blood, 68(4), 971-4, 1986 PubMed
- Kulozik AE, Bellan-Koch A, Kohne E, Kleihauer E, A deletion/inversion rearrangement of the beta-globin gene cluster in a Turkish family with delta beta zero-thalassemia intermedia., Blood, 79(9), 2455-9, 1992 PubMed
- Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL, Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification., Blood, 83(6), 1673-82, 1994 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2019-09-27 10:07:17 (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 10:06:24 | The IthaGenes Curation Team | Reviewed. Reference, Comment and Synonym name adde. |
4 | 2019-09-27 10:07:17 | The IthaGenes Curation Team | Reviewed. |
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