IthaID: 2206
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 8 (-C) | HGVS Name: | HBA2:c.27delC |
| Hb Name: | N/A | Protein Info: | α2 8 (-C); modified C-terminal sequence: (8)Thr-Thr-Ser-Arg-Pro-Pro-Gly-Val-Arg-Ser- Ala-Arg-Thr-Leu-Ala-Ser-Met-Val-Arg-Arg- Pro-Trp-Arg-Gly-Cys-Ser-Cys-Pro-Ser-Pro- Pro-Pro-Arg-Pro-Thr-Ser-Arg-Thr-Ser-Thr-(48)COOH |
Also known as:
Comments: The frameshift gives rise to a premature termination signal within exon 2 at codon 48.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33802 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Tang HS, Zhou JY, Xie XM, Li R, Liao C, Li DZ, A novel α-thalassemia frameshift mutation: codon 8 (-C)., Hemoglobin , 36(2), 192-5, 2012
Created on 2013-10-02 10:07:45,
Last reviewed on 2022-08-12 10:07:42 (Show full history)
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