IthaID: 3277
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 538 bp deletion | HGVS Name: | HBB:c.-464_74del | NG_000007.3:g.70131_70668del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans 538 bp and removes the β-globin promoter, 5' untranslated region (5'UTR) and most of exon 1. The 5' deletion breakpoint is at position -464 relative to the translation initiation codon (position +1 is A of the ATG), and the 3' breakpoint is within amino acid codon 26.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70131 |
| Size: | 538 bp |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Vietnamese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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
- Waye JS, Hanna M, Hohenadel BA, Nakamura L, Walker L, Eng B, Characterization of Two Novel Deletions Involving the 5' Region of the β-Globin Gene., Hemoglobin , 2017 PubMed
Created on 2017-12-11 18:08:32,
Last reviewed on 2018-01-08 19:15:59 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-12-11 18:08:32 | The IthaGenes Curation Team | Created |
| 2 | 2017-12-11 18:14:56 | The IthaGenes Curation Team | Reviewed. Location added. |
| 3 | 2018-01-08 19:14:56 | The IthaGenes Curation Team | Reviewed. Mutation comment edited. |
| 4 | 2018-01-08 19:15:59 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-10-29 15:59:14