IthaID: 142
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 39 CAG>TAG [Gln>STOP] | HGVS Name: | HBB:c.118C>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GCTGCTGGTGGTCTACCCTTGGACC [C>T] AGAGGTTCTTTGAGTCCTTTGGGGA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTX
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70842 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Mediterranean |
| 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
- Orkin SH, Goff SC, Nathan DG, Heterogeneity of DNA deletion in gamma delta beta-thalassemia., The Journal of clinical investigation, 67(3), 878-84, 1981 PubMed
- Trecartin RF, Liebhaber SA, Chang JC, Lee KY, Kan YW, Furbetta M, Angius A, Cao A, beta zero thalassemia in Sardinia is caused by a nonsense mutation., The Journal of clinical investigation, 68(4), 1012-7, 1981 PubMed
- Gorski J, Fiori M, Mach B, A new nonsense mutation as the molecular basis for beta thalassaemia., Journal of molecular biology, 154(3), 537-40, 1982 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-01-10 09:48:57 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2023-01-10 09:48:57 | The IthaGenes Curation Team | Reviewed. Variant info edited |
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IthaGenes was last updated on 2024-11-20 13:24:07