IthaID: 2555
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | α12 | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: HBA2 gene conversion
Comments: The majority of individuals who were positive for the α12 allele had a reduction in the percentage of HbA2. The α12 allele was found in compound heterozygosity with --SEA [IthaID: 309] and Hb Quong Sze [IthaID: 408].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | N/A |
| Fusion involves: | α2, α1 |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Saudi Arabian, 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
- Borgio JF, AbdulAzeez S, Al-Nafie AN, Naserullah ZA, Al-Jarrash S, Al-Madan MS, Al-Muhanna F, Steinberg MH, Al-Ali AK, A novel HBA2 gene conversion in cis or trans: , Blood Cells Mol. Dis. , 53(4), 199-203, 2014 PubMed
- Luo SQ, Chen XY, Tang N, Huang J, Zhong QY, Cai R, Yan TZ, Pedigree Analysis of Nonhomologous Sequence Recombination of and Genes., Hemoglobin, 44(5), 329-333, 2020 PubMed
Created on 2015-06-16 16:54:03,
Last reviewed on 2021-11-30 16:02:28 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2015-06-16 16:54:03 | The IthaGenes Curation Team | Created |
| 2 | 2020-12-23 12:36:36 | The IthaGenes Curation Team | Reviewed. Reference and comment added. |
| 3 | 2020-12-23 12:43:46 | The IthaGenes Curation Team | Reviewed. Origin added. |
| 4 | 2021-11-30 16:02:28 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07