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
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
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-02-28 08:16:08 (Show full history)
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