IthaID: 2997
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -72 T>A | HGVS Name: | HBB:c.-122T>A |
| Hb Name: | N/A | Protein Info: | β nt -72 T>A |
Also known as:
Comments: Point-mutation located in the CCAAT box of the β-globin promoter at position -72 from the Cap site. Luciferase assay showed a decrease of about 50% in transcriptional activity.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70473 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Vietnamese |
| 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
- Pirastru M, Mereu P, Nguyen CQ, Nguyen NV, Nguyen TD, Manca L, A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote., Biomed Res Int , 2017(0), 4537409, 2017 PubMed
Created on 2016-08-24 09:21:48,
Last reviewed on 2017-07-31 12:28:39 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-24 09:21:48 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-24 09:32:03 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-08-24 16:02:35 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2017-07-18 17:17:44 | The IthaGenes Curation Team | Reviewed. Mutation type, location and info updated. Clinical phenotype added. Reference added. |
| 5 | 2017-07-31 12:28:39 | The IthaGenes Curation Team | Reviewed. Mutation description modified. |
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IthaGenes was last updated on 2024-11-20 13:24:07