IthaID: 3409
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 26 GAG>AAG, IVS I-7 A>G | HGVS Name: | HBB:c.[79G>A;92+7A>G] |
| Hb Name: | Hb E-Udon Thani | Protein Info: | β 26(B8) Glu>Lys AND β nt 149 A>G |
Also known as:
Comments: Hb E-Udon Thani is a form of Hb E-β-thalassaemia syndrome caused by a double mutation on a β-globin gene. Found as a heterozygote in a healthy proband with a history of constant hypochromic microcytosis without anaemia, resulting in elevated Hb A2 (5.7%) and an unusually low level of Hb E (3.1%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70673 or 70693 |
| Size: | 1 bp or 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Thai |
| 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
- Singha K, Fucharoen G, Fucharoen S, Molecular characterisation of haemoglobin E-Udon Thani (HBB:c.[79G>A;92+7A>G]): a novel form of Hb E-β-thalassaemia syndrome., J. Clin. Pathol., 72(4), 322-324, 2019 PubMed
Created on 2019-04-17 17:07:56,
Last reviewed on 2022-07-12 11:58:02 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-17 17:07:56 | The IthaGenes Curation Team | Created |
| 2 | 2019-04-17 17:10:23 | The IthaGenes Curation Team | Reviewed. Protein info added. |
| 3 | 2022-07-12 11:58:02 | The IthaGenes Curation Team | Reviewed. Haemoglobinopathy group corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07