IthaID: 206
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS II-2/3 (-2 bp, +11 bp) | HGVS Name: | HBB:c.315+2_315+3delinsACGTTCTCTGA |
| Hb Name: | N/A | Protein Info: | β nts 497 - 498 deleted AND nts ACGTTCTCTGA inserted between nts 496 and 499 of β |
Also known as: IVS II-2,3 (+11/-2)
Comments: Reported in a heterozygous state.
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: | 71041 |
| Size: | 2 bp |
| Located at: | β |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | Iranian |
| 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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In such a case, please Refresh the page or retry at a later stage.
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Frequencies
Publications / Origin
- Najmabadi H, Pourfathollah AA, Neishabury M, Sahebjam F, Krugluger W, Oberkanins C, Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing., Haematologica, 87(10), 1113-4, 2002 PubMed
- Derakhshandeh-Peykar P, Akhavan-Niaki H, Tamaddoni A, Ghawidel-Parsa S, Naieni KH, Rahmani M, Babrzadeh F, Dilmaghani-Zadeh M, Farhud DD, Distribution of beta-thalassemia mutations in the northern provinces of Iran., Hemoglobin, 31(3), 351-6, 2007 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-06-29 14:54:44 (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 | 2014-06-04 12:28:29 | The IthaGenes Curation Team | Reviewed. HbVar link added. |
| 4 | 2014-06-04 12:29:55 | The IthaGenes Curation Team | Reviewed. Common name corrected |
| 5 | 2023-06-29 14:54:17 | The IthaGenes Curation Team | Reviewed. Hemoglobinopathy type, Effect, Chromosomal location, Size, Inheritance, References corrected. Allele phenotype, Comment added. Clinical phenotype removed. |
| 6 | 2023-06-29 14:54:44 | The IthaGenes Curation Team | Reviewed. References added |
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IthaGenes was last updated on 2024-04-18 10:10:45