IthaID: 3074
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)JX | HGVS Name: | NC_000016.10:g.113161_113902del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The 742-bp deletion of the upstream of the α-cluster removes the MCS-R2 (ΗS-40) element containing several transcription factor binding sites, e.g.: GATA-1 and AP-1/NF-E2.
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: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 742 bp |
| Deletion involves: | HS40 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| 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
- Wu MY, He Y, Yan JM, Li DZ, A novel selective deletion of the major α-globin regulatory element (MCS-R2) causing α-thalassaemia., Br. J. Haematol. , 2016 PubMed
Created on 2016-09-08 17:09:36,
Last reviewed on 2016-09-08 17:49:35 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-08 17:09:36 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-08 17:10:44 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-09-08 17:49:35 | The IthaGenes Curation Team | Reviewed. Deletion size added. |
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IthaGenes was last updated on 2024-11-20 13:24:07