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
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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-01-10 09:48:57 (Show full history)
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