IthaID: 3275
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)ALT | HGVS Name: | NC_000016.10:g.113194_116554delins39 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The 3361 bp deletion removes only the major α-globin regulatory element MCS-R2 (HS-40 site). In addition, an insertion of 39 bp bridging the deletion breakpoints was observed possibly resulting from a complex rearrangement involving two fragments of DNA from chromosome 3.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 3.361 kb |
| Deletion involves: | HS40 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Portuguese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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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Publications / Origin
- Ferrão J, Silva M, Gonçalves L, Gomes S, Loureiro P, Coelho A, Miranda A, Seuanes F, Reis AB, Pina F, Maia R, Kjöllerström P, Monteiro E, Lacerda JF, Lavinha J, Gonçalves J, Faustino P, Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia., Ann. Hematol. , 96(11), 1921-1929, 2017 PubMed
Created on 2017-11-08 20:29:58,
Last reviewed on 2022-06-23 09:52:07 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-11-08 20:29:58 | The IthaGenes Curation Team | Created |
| 2 | 2021-11-30 15:56:23 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
| 3 | 2022-06-23 09:51:17 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
| 4 | 2022-06-23 09:52:07 | The IthaGenes Curation Team | Reviewed. Chromosome location added. |
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IthaGenes was last updated on 2024-10-29 15:59:14