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
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
Created on 2021-09-24 11:28:01,
Last reviewed on 2022-08-24 09:26:20 (Show full history)
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