IthaID: 2231
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7 (type III) | HGVS Name: | NG_000006.1:g.34570_38381del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34570 |
| Size: | 3.812 kb |
| Fusion involves: | α2, α1, α3.7 hybrid |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Melanesian, Polynesian, Thai |
| 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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Higgs DR, Hill AV, Bowden DK, Weatherall DJ, Clegg JB, Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution., Nucleic Acids Res. , 12(18), 6965-77, 1984 PubMed
- Hill AV, Bowden DK, Trent RJ, Higgs DR, Oppenheimer SJ, Thein SL, Mickleson KN, Weatherall DJ, Clegg JB, Melanesians and Polynesians share a unique alpha-thalassemia mutation., Am. J. Hum. Genet. , 37(3), 571-80, 1985 PubMed
- Williams TN, Maitland K, Ganczakowski M, Peto TE, Clegg JB, Weatherall DJ, Bowden DK, Red blood cell phenotypes in the alpha + thalassaemias from early childhood to maturity., Br. J. Haematol. , 95(2), 266-72, 1996 PubMed
- Charoenwijitkul T, Singha K, Fucharoen G, Sanchaisuriya K, Thepphitak P, Wintachai P, Karnpean R, Fucharoen S, Molecular characteristics of α-thalassemia (3.7 kb deletion) in Southeast Asia: Molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnostics., Clin Biochem, 71(0), 31-37, 2019 PubMed
Created on 2013-10-03 11:14:48,
Last reviewed on 2021-06-17 15:15:39 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-10-03 11:14:48 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-09 10:31:31 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2021-06-17 15:15:39 | The IthaGenes Curation Team | Reviewed. HGVS name, Chromosome and locus location and reference added. |
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IthaGenes was last updated on 2024-04-18 10:10:45