IthaID: 4113
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 119-121 (+8 bp) | HGVS Name: | HBB:c.358_365dup |
| Hb Name: | Hb Nanjing | Protein Info: | N/A |
Also known as:
Comments: The c.358_365dup frameshift variant in the HBB gene (p.Phe123Alafs*39) was initially reported as a de novo mutation, confirmed through parental testing, in a Chinese individual exhibiting a dominant beta thalassemia phenotype. This frameshift is predicted to produce an abnormally extended β-globin chain with 159 amino acid residues.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | Dominant |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71932 |
| Size: | 8 bp |
| Located at: | β |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| 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
- Yao C, Chen L, Ma J, Li N, Lin J, Huang L, Lin Y, Xue J, A Novel Frameshift Mutation of Causing Dominant β-Thalassemia in a Chinese Individual., Hemoglobin, 48(3), 182-185, 2024 PubMed
Created on 2024-10-30 08:27:47,
Last reviewed on 2024-10-30 08:58:42 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2024-10-30 08:27:47 | The IthaGenes Curation Team | Created |
| 2 | 2024-10-30 08:58:42 | The IthaGenes Curation Team | Reviewed. Reference |
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IthaGenes was last updated on 2024-11-20 13:24:07