IthaID: 4087
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 128-134 (-21bp): (-CAGGCTGCCTATCAGAAAGTG) | HGVS Name: | HBB:c.382_402del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion of 7 codons in exon 3 (codon 128 to codon 134) results in a truncated peptide. Associated with a beta thalassemia trait phenotype in the heterozygous state.
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: | 71956 |
| Size: | 21 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Bao X, Qin D, Wang J, Chen J, Yao C, Liang J, Liang K, Wang Y, Wang Y, Du L, Yin A, Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families., Hum Genomics, 17(1), 111, 2023
Created on 2023-12-19 09:32:34,
Last reviewed on (Show full history)
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