IthaID: 3286
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 61 AAG>TAG [Lys>STOP] | HGVS Name: | HBA2:c.184A>T |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The mutation causes a premature termination of translation, likely leading to nonsense-mediated degradation mRNA or a truncated and unstable protein product.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34076 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| 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
- Liang Y, Peng Q, Li M, Li S, Li W, Lu X, A Novel α-Thalassemia Nonsense Mutation on the α2-Globin Gene: HBA2: c.184A>T., Hemoglobin , 2017 PubMed
- Tian Q, Lei YL, Xu LL, Li DZ, First Report of Nondeletional Hb H Disease Caused by an α2-Globin Gene Mutation: : c.184A>T., Hemoglobin, 45(3), 210-211, 2021 PubMed
Created on 2017-12-19 16:56:13,
Last reviewed on 2022-08-24 11:04:55 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-12-19 16:56:13 | The IthaGenes Curation Team | Created |
| 2 | 2021-09-29 12:54:45 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 3 | 2022-08-24 11:04:55 | The IthaGenes Curation Team | Reviewed. Allele phenotype corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07