IthaID: 3307
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.[63191_70603dup;63291_70703del] |
| Hb Name: | Hb Lepore Rochester-MN | Protein Info: | β-δ hybrid (β through 22; δ from 9) and δ-β hybrid (δ through 22; β from 50) |
Also known as:
Comments: The protein structure is similar to Hb Lepore-Hollandia; however, whereas the latter is regulated by the promoter of the δ-globin gene, this novel variant is regulated by the β-globin gene promoter, thereby resulting in increased protein expression.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | δβ fusion |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63191 |
| Size: | 7.412 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2018-02-06 17:32:51,
Last reviewed on 2018-02-06 17:34:57 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2018-02-06 17:32:51 | The IthaGenes Curation Team | Created |
| 2 | 2018-02-06 17:34:57 | The IthaGenes Curation Team | Reviewed. Protein information added. |
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IthaGenes was last updated on 2024-11-20 13:24:07