IthaID: 3374
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 72 AGT>AGA [Ser>Arg]; CD 73 GAT>TAT [Asp>Tyr] | HGVS Name: | HBB:c.[219T>A;220G>T] |
| Hb Name: | Hb South China | Protein Info: | β 72(E16) Ser>Arg AND β 73(E17) Asp>Tyr |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 70943 or 70944 |
| Size: | 1 bp or 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| 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
- Lv J, Luo Z, Fang J, Du T, Xue H, Liu Y, Zhang J, [A novel double heterozygote of HBB c.[219T>A;220G>T]: gene diagnosis and pedigree analysis]., Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 34(4), 538-541, 2017 PubMed
Created on 2019-04-05 14:10:14,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-05 14:10:14 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07