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
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
Created on 2016-08-24 09:21:48,
Last reviewed on 2017-07-31 12:28:39 (Show full history)
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