IthaID: 2569
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | ααα(anti-4.2) | HGVS Name: | NG_000006.1:g.(31957_31978)_(34525_34544)dup |
Also known as: Triplicated α (anti-4.2)
Comments: Alpha-globin gene triplications are not associated with abnormal haematological parameters but may aggravate the phenotype of patients with beta-thalassaemia. Reciprocal recombination between mispaired X boxes results in an allele with the -α4.2 (leftward deletion) [ithaID=301]and an ααα(anti-4.2) triplication allele. The PCR primers used by Wang et al [PMID: 14500599] place the triplicated allele between positions 171094-171115 (HBA2 upstream) and 173662-173681 (HBA2 3'UTR) (GRCh38.p12), producing an amplicon of around 1.7 kb.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Anaemia [HP:0001903] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | N/A |
| Located at: | α2 |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | N/A |
| 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
- Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D, Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype., The Journal of clinical investigation, 66(6), 1319-25, 1980 PubMed
- Trent RJ, Higgs DR, Clegg JB, Weatherall DJ, A new triplicated alpha-globin gene arrangement in man., Br. J. Haematol. , 49(1), 149-52, 1981 PubMed
- Wang W, Ma ES, Chan AY, Prior J, Erber WN, Chan LC, Chui DH, Chong SS, Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 alpha-globin gene triplications., Clin. Chem., 49(10), 1679-82, 2003 PubMed
Created on 2015-12-07 12:08:12,
Last reviewed on 2022-05-18 09:45:18 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2015-12-07 12:08:12 | The IthaGenes Curation Team | Created |
| 2 | 2015-12-07 12:09:27 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 3 | 2019-07-04 12:14:31 | The IthaGenes Curation Team | Reviewed. Phenotype added. |
| 4 | 2020-03-24 20:03:03 | The IthaGenes Curation Team | Reviewed. Comment and Reference added. |
| 5 | 2022-04-13 11:34:08 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
| 6 | 2022-05-18 09:45:18 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
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IthaGenes was last updated on 2024-10-29 15:59:14