IthaID: 2966
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 98/99 (+TG) | HGVS Name: | HBB:c.296_297dup |
| Hb Name: | Hb Patagonia | Protein Info: | β 99(+TG); modified C-terminal sequence |
Also known as:
Comments: Appears as de novo mutation, in heterozygote state, with severe thalassaemia-like features. Patient presented with haemolytic anaemia requiring multiple blood transfusions, followed by splenectomy. Predicted to cause frameshift resulting in an elongated β-globin and a modified C-terminal sequence. Structural characterization suggested alteration of the tertiary structure, as well as of the majority of the positions involved in αβ dimer formation.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Hyperunstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71020 |
| Size: | 2 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Argentinean |
| Molecular mechanism: | Unstable T state |
| 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
- Scheps KG, Hasenahuer MA, Parisi G, Fornasari MS, Pennesi SP, Erramouspe B, Basack FN, Veber ES, Aversa L, Elena G, Varela V, Hb Wilde and Hb Patagonia: two novel elongated beta-globin variants causing dominant beta-thalassemia., Eur. J. Haematol. , 94(6), 498-503, 2015 PubMed
Created on 2016-08-23 14:53:33,
Last reviewed on 2022-01-28 12:42:28 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-23 14:53:33 | The IthaGenes Curation Team | Created |
| 2 | 2022-01-28 12:42:28 | The IthaGenes Curation Team | Reviewed. Chromosome and locus location corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07