IthaID: 400
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7;CD 109 CTG>CGG | HGVS Name: | N/A |
| Hb Name: | Hb Suan Dok | Protein Info: | N/A |
Also known as:
Comments: Hb Suan-Dok [α109(G16) Leu>Arg] was found in HBA2 on a chromosome that carries the -3.7 kb deletion (-α3.7). Depending on its position on HBA2 (g.34363) and relative to the crossover region, -α3.7 type II [IthaID: 2230] or type III [IthaID: 2231] could exist or any of the various sub-types with different breakpoints [SALSA MLPA Probemix P140 HBA]. Reported as an α0-thalassaemia allele.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α0 |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | α2, α3.7 hybrid |
Other details
| Type of Mutation: | Combination |
|---|---|
| Ethnic Origin: | Spanish |
| 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
- Moradkhani K, Mazurier E, Giordano PC, Wajcman H, Préhu C, An alpha0-thalassemia-like mutation: Hb Suan-Dok [alpha109(G16)Leu-->Arg] carried by a recombinant -alpha(3.7) gene., Hemoglobin, 32(4), 419-24, 2008 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-03-08 11:33:19 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-10-02 10:36:41 | The IthaGenes Curation Team | Reviewed. Comment added. DNA info edited. |
| 4 | 2020-10-02 10:37:02 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2020-10-02 10:37:39 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2021-11-04 11:33:57 | The IthaGenes Curation Team | Reviewed. Common name corrected. HGVS name deleted. Origin added. |
| 7 | 2024-03-08 11:33:19 | The IthaGenes Curation Team | Reviewed. Comment added, Variant type and Genes edited |
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IthaGenes was last updated on 2024-04-18 10:10:45