IthaID: 2302
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -113 A>G | HGVS Name: | HBG1:c.-166A>G |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Present in the distal CCAAT box of the Aγ gene. Found in a heterozygous state in one Italian subject with elevated Hb F levels to 6.5%. This mutation does not disrupt the binding of the HbF repressor BCL11A (TGACCA site), but rather creates a de novo binding site for the master erythroid regulator GATA1 to drive γ-globin expression and HbF production.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | HPFH |
|---|---|
| Hemoglobinopathy Subgroup: | HPFH |
| Allele Phenotype: | HPFH |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 47646 |
| Size: | 1 bp |
| Located at: | Aγ |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Italian |
| 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
- Amato A, Cappabianca MP, Perri M, Zaghis I, Grisanti P, Ponzini D, Di Biagio P, Interpreting elevated fetal hemoglobin in pathology and health at the basic laboratory level: new and known γ- gene mutations associated with hereditary persistence of fetal hemoglobin., Int J Lab Hematol , 2013 PubMed
- Martyn GE, Wienert B, Kurita R, Nakamura Y, Quinlan KGR, Crossley M, A natural regulatory mutation in the proximal promoter elevates fetal expression by creating a de novo GATA1 site., Blood, 133(8), 852-856, 2019 PubMed
Created on 2014-01-08 16:18:16,
Last reviewed on 2020-10-08 13:49:39 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-01-08 16:18:16 | The IthaGenes Curation Team | Created |
| 2 | 2014-01-08 16:18:54 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-12-03 14:59:27 | The IthaGenes Curation Team | Reviewed. Comment added. Reference added. |
| 4 | 2020-10-08 13:49:39 | The IthaGenes Curation Team | Reviewed. Comment. |
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IthaGenes was last updated on 2024-11-20 13:24:07