IthaID: 2480
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 129 CTG>-TG | HGVS Name: | HBA2:c.388delC |
| Hb Name: | Hb Hamilton Hill | Protein Info: | α2 129 (-C); modified C-terminal sequence |
Also known as:
Comments: As a result of this base deletion, a frameshift in the open reading frame generates a premature termination codon at codon 132 of exon 3 resulting in the formation of a truncated α-globin chain. This deletion affects α-globin gene expression at both transcriptional and translation levels.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34422 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Qadah T, Finlayson J, North E, Ghassemifar R, Molecular characterization of Hb Hamilton Hill (HBA2: c.388delC), a novel HBA2 variant generating a premature termination codon and truncated HBA2 chain., Hemoglobin , 39(2), 88-94, 2015
Created on 2014-06-04 10:15:21,
Last reviewed on 2016-09-08 19:35:59 (Show full history)
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