IthaID: 2417
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 31 AGG>--G | HGVS Name: | HBA1:c.94_95delAG | HBA2:c.94_95delAG |
| Hb Name: | N/A | Protein Info: | α2 or α1 31 (-AG); modified C-terminal sequence |
Also known as:
Comments: Found in the context of a −α3.7 thalassemia chromosome.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 2 bp |
| Located at: | α3.7 hybrid |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | African-American |
| 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
- Zhao P, Buller-Burckle AM, Peng M, Anderson A, Han ZJ, Gallivan MV, Secondary mutation (c.94_95delAG) in a -α3.7 allele associated with Hb H disease in two unrelated African American individuals homozygous for the -α(3.7) deletion (-α3.7/-α3.7T)., Hemoglobin , 36(1), 103-7, 2012 PubMed
Created on 2014-05-29 08:33:52,
Last reviewed on 2020-10-02 10:35:08 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-05-29 08:33:52 | The IthaGenes Curation Team | Created |
| 2 | 2020-10-02 10:35:08 | The IthaGenes Curation Team | Reviewed. Comment added. Location corrected. |
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IthaGenes was last updated on 2023-03-22 16:46:31