IthaID: 3390
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | βδβ hybrid | HGVS Name: | N/A |
| Hb Name: | Hb Palencia | Protein Info: | N/A |
Also known as:
Comments: A β-like globin chain composed of an internal δ-globin fragment and β-globin N-terminal and C-terminal sequences. The βδβ hybrid gene comprises both the promoter region and the IVS-II of the HBB gene, and its synthesis is like that of β-globin. The δ sequence bears mutations that could confer it with anti-sickling properties. It is most likely the result of a cross-linking between a Lepore-type gene and an HBB gene. Detected during a routine health check in an otherwise asymptomatic individual.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | N/A |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence 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
- Nieto JM, González FA, Alonso JM, Golvano E, Guerrero L, Albarrán B, Villegas A, Martínez RB, Ropero P, Hb Palencia: a novel δβδ-type two-way fusion variant with β-globin-like expression levels., J. Clin. Pathol., 72(1), 46-51, 2019 PubMed
Created on 2019-04-08 14:40:58,
Last reviewed on 2019-05-02 16:54:13 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-08 14:40:58 | The IthaGenes Curation Team | Created |
| 2 | 2019-05-02 16:54:13 | The IthaGenes Curation Team | Reviewed. Genes and Allele phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07