IthaID: 2244
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)JM | HGVS Name: | NC_000016.10:48642_132584del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans 83.9 kb upstream of the α-globin gene locus, extending from POLR3K gene down to NPRL3 gene, including the HS-48, HS-40 and HS-33 α-globin regulatory elements. The precise breakpoints were determined through long-read sequencing. Gap-PCR and Sanger sequencing confirmed the breakpoint. Heterozygosity occurs with α-thalassemia trait, while co-inheritance with α0-thalassemia occurs with Hb Bart's hydrops fetalis.
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: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 83.943 kb |
| Deletion involves: | HS40, ζ, NPRL3 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | South European | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint 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
- Horsley SW, Daniels RJ, Anguita E, Raynham HA, Peden JF, Villegas A, Vickers MA, Green S, Waye JS, Chui DH, Ayyub H, MacCarthy AB, Buckle VJ, Gibbons RJ, Kearney L, Higgs DR, Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects., Eur. J. Hum. Genet. , 9(3), 217-25, 2001 PubMed
- Feng J, Mao A, Lu Y, Shi H, Meng W, Liang C, Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing., Blood Cells Mol Dis, 2023 PubMed
Created on 2013-10-03 16:34:09,
Last reviewed on 2023-08-04 12:01:35 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-10-03 16:34:09 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2023-08-04 11:23:14 | The IthaGenes Curation Team | Reviewed. HGVS name, Comment, Location, Size, Origin and Reference added. |
| 4 | 2023-08-04 11:31:28 | The IthaGenes Curation Team | Reviewed. Reference |
| 5 | 2023-08-04 12:01:35 | The IthaGenes Curation Team | Reviewed. Text edits |
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IthaGenes was last updated on 2024-11-20 13:24:07