IthaID: 3433
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | anti-Hkαα | HGVS Name: | N/A |
Also known as:
Comments: The anti-HKαα allele is a rearrangement occurring in the α-globin gene cluster containing both the -α4.2 [IthaID: 301] and ααα(anti3.7) [IthaID: 2561] unequal crossover junctions. The anti-HKαα allele consists of two functional genes; α1 and α1/α2 (fusion) genes (See [PMID: 22989259] for a diagram illustrating the crossover that leads to the anti-HKαα allele). Heterozygosity for anti-HKαα presented with a normal haematological phenotype. Compound heterozygosity for anti-HKαα and an in cis deletion of double α genes (--SEA) presented as α-thalassaemia trait.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- De Wolf AM, Van Zundert TC, De Cooman S, Hendrickx JF, Theoretical effect of hyperventilation on speed of recovery and risk of rehypnotization following recovery - a GasMan® simulation., BMC Anesthesiol, 12(0), 22, 2012 PubMed
- Shang X, Li Q, Cai R, Huang J, Wei X, Xu X, Molecular characterization and clinical presentation of HKαα and anti-HKαα alleles in southern Chinese subjects., Clin. Genet., 83(5), 472-6, 2013 PubMed
Created on 2019-06-10 15:03:22,
Last reviewed on 2019-06-11 08:56:18 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-06-10 15:03:22 | The IthaGenes Curation Team | Created |
| 2 | 2019-06-10 15:03:48 | The IthaGenes Curation Team | Reviewed. Location added. |
| 3 | 2019-06-10 15:11:03 | The IthaGenes Curation Team | Reviewed. Reference added, Comment updated. |
| 4 | 2019-06-10 15:13:23 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2019-06-11 08:48:07 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 6 | 2019-06-11 08:54:44 | The IthaGenes Curation Team | Reviewed. |
| 7 | 2019-06-11 08:55:30 | The IthaGenes Curation Team | Reviewed. |
| 8 | 2019-06-11 08:56:18 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-10-29 15:59:14