IthaID: 2958
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 7/8 (+G) | HGVS Name: | HBB:c.24dupG |
| Hb Name: | N/A | Protein Info: | β 8(+G); modified C-terminal sequence: (8)Glu-Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly-Glu-Arg-Gly-(22)COOH |
Context nucleotide sequence:
GGTGCATCTGACTCCTGAGGAG [-/G] AAGTCTGCCGTTACTGCCCTGT (Strand: -)
Also known as:
Comments: The mutation causes a shift of the open globin reading frame, which leads to the development of a terminal codon in codon 22. The thalassaemic allele is associated with the mediterranean haplotype IX. The mutation presents with beta0-thalassaemia minor and slightly elevated HbF.
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: | 70618 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Slovakian |
| 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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Frequencies
Publications / Origin
- Kynclová E, Divoký V, Kovaríková L, Melichárková R, Indráková J, Divoká M, Hammerová T, Sakalová A, Hudecek J, Indrák K, [New beta0-thalassaemic insertion mutation (CD 7/8, +G) in a Slovak family, associated with the Mediterranean haplotype IX]., Vnitr Lek , 45(3), 151-4, 1999 PubMed
- 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 11:50:36,
Last reviewed on 2019-11-12 16:20:42 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-23 11:50:36 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-24 14:38:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-08-24 14:39:18 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2016-09-06 16:08:00 | The IthaGenes Curation Team | Reviewed. Comment modified. Reference added. |
| 5 | 2019-11-12 16:09:56 | The IthaGenes Curation Team | Reviewed. Mutations names and Location corrected. Allele and Context sequence added. |
| 6 | 2019-11-12 16:20:42 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07