IthaID: 3609
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 20/21 (-TGGA) | HGVS Name: | HBB:c.62_65delTGGA |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TGCCGTTACTGCCCTGTGGGGCAAGGTGAACG [TGGA/-] TGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVKLVVRPWAGCWWSTLGPRGSLSPLGICPLLMLLWATLRX
Also known as:
Comments: Found in an asymptomatic 39-years old Spanish man with microcytic hypochromic red cells and an increased level of Hb A2 (5.1%). The 4-bp frameshift deletion creates a premature stop codon at the amino acid 60 resulting to a truncated β chain.
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: | 70656 |
| Size: | 4 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: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Ropero P, González FA, Villas JM, Paúl R, Villegas A, The novo 4 BP deletion in the codons 20/21 (-TGGA) at the first exon of the beta-globin gene causing a beta0-thalassemia in a Spanish male., Ann. Hematol., 87(1), 63-5, 2008
Created on 2020-08-10 11:09:29,
Last reviewed on (Show full history)
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