IthaID: 3407
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)JS | HGVS Name: | NC_000016.10:g.46628_126325del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans approximately 80 kb of DNA, extending from the POLR3K gene to the downstream region of the NPRL3 gene. The deletion removes the POLR3K, SNRNP25, RHBDF1, MPG and NPRL3 genes, as well as the MCS-R1, -R2 and -R3 elements upstream of the α-globin gene cluster. The α-globin genes remain intact. The deletion is the result of Alu-mediated homologous recombination. The proband is heterozygous for the deletion with haematological characteristics similar to those manifested with the --SEA deletion (Hb: 109 g/L, MCV: 66 fL, MCH: 20.3 pg, HbF: 0.3%, and HbA2: 2.7%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External 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: | 79.698 kb |
| Deletion involves: | HS40, NPRL3 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | 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
- Li Z, Shang X, Luo S, Zhu F, Wei X, Zhou W, Ye Y, Yan T, Cai R, Xu X, Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α-thalassemia by targeted next-generation sequencing., Mol. Genet. Genomics, 295(2), 505-514, 2020 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Li Zhiming | 2019-04-14 | First report. |
Created on 2019-04-15 11:42:44,
Last reviewed on 2021-03-19 12:09:59 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-04-15 11:42:44 | The IthaGenes Curation Team | Created |
| 2 | 2019-04-15 11:44:43 | The IthaGenes Curation Team | Reviewed. Gene added. |
| 3 | 2019-06-11 14:57:55 | The IthaGenes Curation Team | Reviewed. HbVar link added. |
| 4 | 2020-06-25 13:12:06 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2020-06-28 22:47:58 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 6 | 2021-03-19 12:09:59 | The IthaGenes Curation Team | Reviewed. HGVS name and chromosome location corrected. |
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IthaGenes was last updated on 2024-04-18 10:10:45