IthaID: 120
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS I-130 (+1) or CD 30, (G>C); AGG>AGC (Arg>Ser) | HGVS Name: | HBB:c.93G>C |
| Hb Name: | Hb Tacoma II | Protein Info: | N/A |
Context nucleotide sequence:
TATTGGTCTATTTTCCCACCCTTAG [G>C] CTGCTGGTGGTCTACCCTTGGACCC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGSLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 / β+ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70817 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing), Missense codons (Protein Structure) |
| Ethnic Origin: | Middle East, Fijian Indian |
| 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
- el-Kalla S, Mathews AR, A significant beta-thalassemia heterogeneity in the United Arab Emirates., Hemoglobin, 21(3), 237-47, 1997 PubMed
- Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L, The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population., Eur J Med Genet , 59(8), 355-62, 2016 PubMed
- Moore JordynA,Pullon BeverleyM,Wang Darrell,Brennan StephenO, Hb Tacoma: G>T or G>C, and Does It Matter?, Hemoglobin, 3(3), 203-206, 2022 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2023-11-13 10:00:22 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-09-02 14:52:09 | The IthaGenes Curation Team | Reviewed. Origin and Reference added. |
| 4 | 2017-05-29 10:59:14 | The IthaGenes Curation Team | Reviewed. Type of Mutation section updated. |
| 5 | 2023-11-10 10:35:18 | The IthaGenes Curation Team | Reviewed. Hb name added |
| 6 | 2023-11-13 09:56:31 | The IthaGenes Curation Team | Reviewed. Reference added |
| 7 | 2023-11-13 09:59:15 | The IthaGenes Curation Team | Reviewed. Ethnic origin section corrected/updated |
| 8 | 2023-11-13 10:00:22 | The IthaGenes Curation Team | Reviewed. Allele phenotype changed to β0/β+ due to conflicting reports |
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IthaGenes was last updated on 2024-04-18 10:10:45