IthaID: 2960
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 46/47 (+G) | HGVS Name: | HBB:c.142_142dupG |
| Hb Name: | N/A | Protein Info: | β 47(+G); modified C-terminal sequence: (47)Gly-Ser-Val-His-Ser-(52)COOH |
Also known as:
Comments: Found as a heterozygote with an alpha anti-3.7 kb quadruplication. This frameshift results in the termination of translation at codon 52 (TGA). Affected probands had high levels of Hb F (4.8% and 9.1%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70866 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| 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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Frequencies
Publications / Origin
- Divoka M, Partschova M, Kucerova J, Mojzikova R, Cermak J, Pospisilova D, Fabryova V, Prochazkova D, Indrak K, Divoky V, Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations., Hemoglobin , 40(3), 156-62, 2016 PubMed
Created on 2016-08-23 12:05:03,
Last reviewed on 2016-09-06 16:03:21 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-23 12:05:03 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-24 14:45:22 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-09-06 16:03:21 | The IthaGenes Curation Team | Reviewed. Origin updated. Reference added. |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-04-18 10:10:45