IthaID: 2954
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 42 TTT>TT- | HGVS Name: | HBB:c.129delT |
| Hb Name: | Hb Yala | Protein Info: | β 42 (-T); modified C-terminal sequence: (42)Leu-Ser-Pro-Leu-Gly-Ile-Cys-Pro-Leu-Leu- Met-Leu-Leu-Trp-Ala-Thr-Leu-Arg-(60)COOH |
Also known as:
Comments: Found as a heterozygote with the Hb E variant. The deletion causes a frameshift at codon 42 which results in a premature termination codon (PTC) at codon 60.
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: | β0 |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70853 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Thai |
| Molecular mechanism: | Altered heme pocket |
| 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
- Ekwattanakit S, Riolueang S, Viprakasit V, Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β(0) thalassemia., Hematology , 2017 PubMed
Created on 2016-08-23 10:59:27,
Last reviewed on 2017-09-16 10:41:36 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-23 10:59:27 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-23 11:04:20 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-08-24 14:30:17 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2017-09-16 10:39:26 | The IthaGenes Curation Team | Reviewed. Mutation comment edited. Other Details section updated. Reference added. |
| 5 | 2017-09-16 10:41:36 | The IthaGenes Curation Team | Reviewed. Detection methods section updated. |
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IthaGenes was last updated on 2024-11-20 13:24:07