IthaID: 372
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 39-41 (-9 bp, + 8 bp) | HGVS Name: | NG_000006.1:g.34010_34018delinsTACTTCCC |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: A deletion of 9 bp (codons 39–41) is replaced by an eight nucleotide insertion, duplicating the adjacent downstream sequence. It results in a premature stop of α2-globin synthesis at codon 48 (TGA).
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: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34010 |
| Size: | 9 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Yemenite-Jewish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- Oron-Karni V, Filon D, Rund D, Oppenheim A, A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene., Hum. Mol. Genet. , 6(6), 881-5, 1997 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-03-30 16:53:55 (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 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-03-30 16:53:55 | The IthaGenes Curation Team | Reviewed. HGVS name and Location corrected. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07