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
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To the best of our knowledge, this is unpublished data.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)
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