IthaID: 3896
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 132 (AAA>AA-) | HGVS Name: | HBB:c.399del |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CACCAGTGCAGGCTGCCTATCAGAA [A/-] GTGGTGGCTGGTGTGGCTAATGCCC (Strand: -)
Also known as:
Comments: Found as a de novo mutation causing dominant phenotype β-thalassaemia major, in a 3-year-old male presented with severe anaemia. The frameshift mutation delayed the termination of translation, resulting in an elongated β-globin variant, with an additional 10 amino acids.
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71973 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zhou X, Chen T, Zhang Q, Qi M, Zhang L, Du J, Chi H, Shen B, Xu X, Lu Y, De novo HBB frameshift mutation in a patient with dominant β-thalassemia major., Int J Lab Hematol, 44(1), e21-e25, 2022
Created on 2022-03-01 23:25:56,
Last reviewed on (Show full history)
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