IthaID: 4106
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 23 GTT>TTT; CD 26 GAG>AAG | HGVS Name: | HBB:c.[70G>T;79G>A] |
| Hb Name: | Hb E-Palmerston North | Protein Info: | β 23(B5) Val>Phe;β 26(B8) Glu>Lys |
Also known as:
Comments: The mutation was detected in an adult Thai female during prenatal diagnosis of thalassemia and hemoglobinopathies. DNA sequencing analysis of the whole β-globin gene revealed double mutations of Hb E (IthaID:88) and Hb Palmerston North (IthaID:880) in the same β-globin gene which could be confirmed by multiplex allele-specific amplification. Hb analysis showed an unusually low level of Hb E in heterozygotic form.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | β+ |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70664 or 70673 |
| 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Singha, Kritsada | 2024-08-25 | First report. |
| 2 | Fucharoen, Supan | 2024-08-25 | First report. |
| 3 | Pansuwan, Anupong | 2024-08-25 | First report. |
Created on 2024-08-29 10:07:04,
Last reviewed on 2024-08-29 10:08:30 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2024-08-29 10:07:04 | The IthaGenes Curation Team | Created |
| 2 | 2024-08-29 10:08:30 | The IthaGenes Curation Team | Reviewed. Links added. |
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IthaGenes was last updated on 2024-09-10 10:53:47