IthaID: 3237
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 59/60 (+GG) | HGVS Name: | HBD:c.180_181dup |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The frameshift results in a premature stop of δ-globin synthesis at codon 61. The premature termination of translation can produce unwanted and unstable truncated chains, usually causing δ0-thal. No Hb A2 variant was found.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | δ0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63490 |
| Size: | 2 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese |
| 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
- Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ, Analysis of δ-globin gene mutations in the Chinese population., Hemoglobin , 37(1), 85-93, 2013 PubMed
Created on 2017-07-12 12:31:48,
Last reviewed on 2022-04-07 10:11:17 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-07-12 12:31:48 | The IthaGenes Curation Team | Created |
| 2 | 2017-07-12 12:35:24 | The IthaGenes Curation Team | Reviewed. Mutation comment updated. |
| 3 | 2022-04-07 10:11:17 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07