IthaID: 3112
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | African II duplication | HGVS Name: | NC_000011.10:g.5268938_5268939ins4619102_(5180070_5183700)ins(5216190_5222040)_5268938 |
Also known as:
Comments: The duplication includes an intact β-globin gene cluster with the sickle cell mutation and a partial wild-type β-globin gene cluster (lacking both the 5'βLCR and 3'HS1) in the same locus, resulting in three copies of β-globin gene in the genome. The duplication event is probably the result of non-homologous recombination between L1PB1 and intron 2 of HBE1. The associated phenotype is likely to be silent when not present with other haemoglobinopathy mutations.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | African |
| 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
- Reading NS, Shooter C, Song J, Miller R, Agarwal A, Lanikova L, Clark B, Thein SL, Divoky V, Prchal JT, Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression., Hum. Mutat. , 2016 PubMed
Created on 2016-09-29 09:57:11,
Last reviewed on 2022-02-08 18:00:13 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-09-29 09:57:11 | The IthaGenes Curation Team | Created |
| 2 | 2016-09-29 09:59:21 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-09-29 10:01:24 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2022-02-08 18:00:13 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-11-20 13:24:07