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
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
Created on 2016-08-23 12:05:03,
Last reviewed on 2016-09-06 16:03:21 (Show full history)
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