IthaID: 3272
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -533 (-ATAAG) | HGVS Name: | HBG2:c.-533_-529delATAAG |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The 5 bp deletion (-ATAAG) resides in the GATA-I binding site in the promoter region, resulting in the upregulation of γ-globin gene expression by disrupting GATA-I binding and the associated repressor complex. When co-inherited with β-thalassemia trait it leads to a phenotype of HPFH.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | HPFH |
|---|---|
| Hemoglobinopathy Subgroup: | HPFH |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 42302 |
| Size: | 5 bp |
| Located at: | Gγ |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Hariharan P, Sawant M, Gorivale M, Manchanda R, Colah R, Ghosh K, Nadkarni A, Synergistic effect of two β globin gene cluster mutations leading to the hereditary persistence of fetal hemoglobin (HPFH) phenotype., Mol. Biol. Rep. , 44(5), 413-417, 2017
Created on 2017-11-08 17:50:58,
Last reviewed on (Show full history)
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