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
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
Created on 2016-08-24 12:11:41,
Last reviewed on 2016-08-24 12:13:20 (Show full history)
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