IthaID: 3014
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 2 CAT>C-T | HGVS Name: | HBB:c.8delA |
| Hb Name: | N/A | Protein Info: | β 1 (-T); modified C-terminal sequence: (1)Gly-Ile-(3)COOH |
Protein sequence:
MVLX
Also known as:
Comments: Found as a heterozygote associated with a beta-thal mutation. Observed in a child with clinical symptoms of thalassemia at an age of 6 months, with fever and pallor. The child only survived for 11 months with two transfusions occurring within survival period. This deletion results in a stop codon after third position of the growing amino-acid chain, purportedly leading to β0 condition from that allele.
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: | 70602 |
| 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: | Indian |
| 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
- Nagar R, Sinha S, Raman R, Genotype-phenotype correlation and report of novel mutations in β-globin gene in thalassemia patients., Blood Cells Mol. Dis. , 55(1), 10-4, 2015 PubMed
Created on 2016-08-24 12:11:41,
Last reviewed on 2016-08-24 12:13:20 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-24 12:11:41 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-24 12:13:20 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07