IthaID: 3405
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 47-53 (-20bp): (-GACCTGAGCCACGGCTCTGC) | HGVS Name: | HBA2:c.142_161del |
| Hb Name: | N/A | Protein Info: | α2 47 - 53 (-GACCTGAGCCACGGCTCTGC); modified C-terminal sequence |
Context nucleotide sequence:
CTACTTCCCGCACTTC [GACCTGAGCCACGGCTCTGC/-] CCAGGTTAAGGGCCAC (Strand: +)
Also known as:
Comments: The 20 nt deletion creates a frameshift and a premature termination codon and would probably undergo nonsense-mediated decay, causing a thalassemic phenotype.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34034 |
| Size: | 20 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Norwegian |
| 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
- Grimholt RM, Fjeld B, Klingenberg O, Hemoglobinopathy gone astray-three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing., Scand J Clin Lab Invest, 2021 PubMed
Created on 2019-04-12 09:45:47,
Last reviewed on 2022-07-12 12:01:24 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-12 09:45:47 | The IthaGenes Curation Team | Created |
| 2 | 2021-05-26 10:32:47 | The IthaGenes Curation Team | Reviewed. Common and HGVS name corrected. |
| 3 | 2021-05-26 10:36:00 | The IthaGenes Curation Team | Reviewed. Allele added. |
| 4 | 2021-12-06 16:19:19 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 5 | 2022-07-12 12:01:24 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07