IthaID: 3281
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 130 (+T) | HGVS Name: | HBA1:c.393_394insT |
| Hb Name: | Hb Sichuan | Protein Info: | N/A |
Also known as:
Comments: The insertion of a thymidine (T) between codons 130 and 131 disrupts the normal reading frame after codon 131 inducing an in-phase stop codon 133 residues downstream, resulting in an extended α-globin chain with an extra 34 amino acids. It is responsible for a severe anaemia phenotype when combined with an α0-thal mutation.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available 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: | 38238 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | Disrupted AHSP binding |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Jiang H, Huang LY, Zhen L, Jiang F, Li DZ, Two α1-Globin Gene Point Mutations Causing Severe Hb H Disease., Hemoglobin , 2017
Created on 2017-12-11 19:33:12,
Last reviewed on 2017-12-13 16:45:09 (Show full history)
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