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
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
Created on 2019-11-04 15:31:13,
Last reviewed on 2019-11-04 15:32:00 (Show full history)
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