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 |
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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) |
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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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
Created on 2017-12-11 19:33:12,
Last reviewed on 2017-12-13 16:45:09 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2017-12-11 19:33:12 | The IthaGenes Curation Team | Created |
2 | 2017-12-13 16:45:09 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2024-09-28 12:00:32