IthaID: 3860
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 130 TAT>TAG [Tyr>STOP] | HGVS Name: | HBB:c.393T>G |
| Hb Name: | N/A | Protein Info: | β 130(H8) Tyr>Stop |
Context nucleotide sequence:
TCACCCCACCAGTGCAGGCTGCCTA [T/G] CAGAAAGTGGTGGCTGGTGTGGCTA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAX
Also known as:
Comments: Found in two Chinese patients with hypochromic microcytic anemia. The substitution results in a premature termination codon at codon 130 generating a truncated β-chain and causing the dominant β-thalassaemia trait.
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: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71967 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| 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
- Zhao Q, Zhao SM, Zhang X, Chen SP, Sun J, Peng ZY, Sun Y, Fan C, Xing XD, Li R, Detection of the HBB:c.393T>G Mutation in Two Patients with Hypochromic Microcytic Anemia, Hemoglobin, 45(3), 150-153, 2021 PubMed
Created on 2021-09-24 11:28:01,
Last reviewed on 2022-08-24 09:26:20 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-09-24 11:28:01 | The IthaGenes Curation Team | Created |
| 2 | 2022-08-24 09:26:20 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07