IthaID: 3888
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 97/98 (+GCAC) | HGVS Name: | HBB:c.291_294dup |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GAGCTGCACTGTGACAAGCTGCAC [-/GCAC] GTGGATCCTGAGAACTTCAGGGTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHARGS*
Also known as:
Comments: Found in a mother with a history of transfusion-dependent thalassemia and also in her child presented with anemia and clinical data of thalassemia. The 4 bp insertion (GCAC), causes a frameshift that introduces a premature stop codon four amino acids further down the new reading frame.
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: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71015 |
| Size: | 4 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Mexican |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Martínez Villegas O, Mendoza-Meléndez D, Trueba-Gómez R, Rosenfeld-Mann F, Baptista-González HA, Estrada-Juárez H, Analysis of a Novel Mexican Variant of the Gene Associated with β-Thalassemia Using Bioinformatic Tools., Hemoglobin, 45(2), 87-93, 2021
Created on 2022-01-28 14:00:10,
Last reviewed on 2022-08-24 09:24:44 (Show full history)
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