IthaID: 381
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 62 (-GTG) [-Val] | HGVS Name: | HBA1:c.187_189del |
| Hb Name: | Hb Aghia Sophia | Protein Info: | α1 62(E11) Val->0 |
Context nucleotide sequence:
CCAGGTTAAGGGCCACGGCAAGAAG [GTG/-] GCCGACGCGCTGACCAACGCCGTGG (Strand: +)
Also known as:
Comments: The 3bp deletion is virtually silent in the heterozygote carrier and is revealed only by the interaction with an α0-thalassaemia haplotype.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37883 |
| Size: | 3 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | Greek |
| 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
- Traeger-Synodinos J, Harteveld CL, Kanavakis E, Giordano PC, Kattamis C, Bernini LF, Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an , Hemoglobin , 23(4), 317-24, 1999 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-02-28 08:16:08 (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 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2022-02-28 08:16:08 | The IthaGenes Curation Team | Reviewed. Allele phenotype and size corrected. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07