IthaID: 3483
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 121 GAA>-AA | HGVS Name: | HBB:c.364delG |
| Hb Name: | Hb Mahasarakham | Protein Info: | N/A |
Also known as:
Comments: Single nucleotide deletion (-G) generating a frameshift, which results in an elongated β-globin and a modified C-terminal sequence. Found as a compound heterozygote with Hb E variant in a 2-year-old proband with transfusion-dependent beta-thalassaemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Dominant |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 6394 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Thai |
| 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
- Nuinoon M, Thipthara O, Fucharoen S, Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (: c.364delG) and Hb E (: c.79G>A) with Heterozygous α-Thalassemia-2., Hemoglobin, 43(1), 52-55, 2019 PubMed
Created on 2019-11-04 14:45:36,
Last reviewed on 2019-11-04 14:55:47 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-11-04 14:45:36 | The IthaGenes Curation Team | Created |
| 2 | 2019-11-04 14:54:50 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-11-04 14:55:47 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07