IthaID: 3484
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 30 (-A) or IVS I (-2) AGG>-GG | HGVS Name: | HBB:c.91delA |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deleted nt A changes the splice receptor site of intron 1, which likely abolishes the splicing at the normal 5′ splicing site according to the GU-AG rule and causes partial intron 1 to remain in the mature mRNA, forming an immature stop codon (IVS I 128-130, TAG). Found as a heterozygote in a patient with β-thalassaemia.
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: | 70685 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | Chinese Han |
| 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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Publications / Origin
- Jia W, Wang W, Zhu H, Chen P, A Novel Mutation at HBB: c.91delA (Codon 30, -A) Causing β-Thalassemia in a Chinese Family., Acta Haematol., 2019 PubMed
Created on 2019-11-04 15:31:13,
Last reviewed on 2019-11-04 15:32:00 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-11-04 15:31:13 | The IthaGenes Curation Team | Created |
| 2 | 2019-11-04 15:32:00 | The IthaGenes Curation Team | Reviewed. Paper added. |
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IthaGenes was last updated on 2024-11-20 13:24:07