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
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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-06-29 14:54:44 (Show full history)
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