IthaID: 2149
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.42946_70654del |
| Hb Name: | Hb Ulsan | Protein Info: | Gγ-β hybrid (Gγ through 13; β from 21) |
Also known as: Hb Gγ-β Ulsan
Comments: γβ hybrid. Crossover between codon 13 (Gγ) and codon 19 (β). The hybrid globin is identical to the normal β-globin protein in size and in sequence except for the eight N-terminal amino acid substitutions introduced from the Gγ-globin component.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | γβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Korean |
| 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
- Kim SY, Lee SH, Cho SI, Song SH, Hattori Y, Park SK, Song J, Choi Y, Yang M, Park H, Kim SR, Seong MW, Kim JY, Cho HI, Park SS, Molecular identification of the novel Gγ-β hybrid hemoglobin: Hb Gγ-β Ulsan (Gγ through 13; β from 19)., Blood Cells Mol. Dis. , 45(4), 276-9, 2010 PubMed
Created on 2013-09-28 15:45:00,
Last reviewed on 2015-12-07 16:51:11 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-28 15:45:00 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2015-12-07 16:51:11 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-04-18 10:10:45