IthaID: 3561
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 2 CAT/CA- | HGVS Name: | HBB:c.9delT |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
ACCTCAAACAGACACCATGGTGCA [-/T] CTGACTCCTGAGGAGAAGTCTGCCG (Strand: -)
Also known as:
Comments: The loss of a nt T from codon 2 creates a shift in the reading frame with a premature stop codon at codon 3 (TGA). Found together with the promoter mutation HBB:c.-248A>G in one individual (MCV: 51.9 fL, MCH: 15.5 pg, Hb: 10 g/dL, HbA2: 5.7%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
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: | 70603 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Azerbaijani |
| 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
- Bayramov B, Aliyeva G, Asadov C, Mammadova T, Karimova N, Eynullazadeh K, Gafarova S, Akbarov S, Farhadova S, Safarzadeh Z, Abbasov M, A Novel Frameshift Mutation at Codon 2 (-T) (: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan., Hemoglobin, 43(0), 280-282, 2019 PubMed
Created on 2020-01-30 11:04:24,
Last reviewed on 2020-01-30 16:13:19 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-01-30 11:04:24 | The IthaGenes Curation Team | Created |
| 2 | 2020-01-30 16:13:19 | The IthaGenes Curation Team | Reviewed. Comment edits. |
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IthaGenes was last updated on 2024-04-18 10:10:45