IthaID: 3657
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 26 GCG>ACG [Ala>Thr];CD 130 GCT>CCT [Ala>Pro] | HGVS Name: | HBA2:c.[79G>A;391G>C] |
| Hb Name: | Hb Southern Italy | Protein Info: | α2 26(B7) Ala>Thr AND α2 130(H13) Ala>Pro |
Also known as:
Comments: Heterozygotes showed mild microcythemia with normal iron metabolism, normal levels of Hb A2, and no observation of Hb variants by cation-exchange HPLC or cellulose acetate electrophoresis. The two mutations were associated in cis with the SNP +861G>A [IthaID: 3301] in the carriers.
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: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33854 or 34425 |
| Size: | 1 bp or 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | South Italian |
| 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2020-10-14 10:21:48,
Last reviewed on 2022-07-12 11:43:47 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-10-14 10:21:48 | The IthaGenes Curation Team | Created |
| 2 | 2020-10-14 10:24:31 | The IthaGenes Curation Team | Reviewed. Locus location added. |
| 3 | 2020-10-15 12:08:42 | The IthaGenes Curation Team | Reviewed. Origin corrected. |
| 4 | 2022-07-12 11:43:47 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07