IthaID: 200
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS II-1 G>A | HGVS Name: | HBB:c.315+1G>A |
| Hb Name: | N/A | Protein Info: | β nt 496 G>T |
Context nucleotide sequence:
GCACGTGGATCCTGAGAACTTCAGG [A/C/G/T] TGAGTCTATGGGACGCTTGATGTTT (Strand: -)
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: | 71040 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | Mediterranean, African-American, Pakistani |
| 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
- Baird M, Driscoll C, Schreiner H, Sciarratta GV, Sansone G, Niazi G, Ramirez F, Bank A, A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia., Proceedings of the National Academy of Sciences of the United States of America, 78(7), 4218-21, 1981 PubMed
- Treisman R, Proudfoot NJ, Shander M, Maniatis T, A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing., Cell, 29(3), 903-11, 1982 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2016-09-02 14:10:18 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2014-01-09 12:31:53 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-06-04 12:32:33 | The IthaGenes Curation Team | Reviewed. HbVar link corrected. |
| 4 | 2016-09-02 14:10:18 | The IthaGenes Curation Team | Reviewed. Origin and Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07