IthaID: 2537
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 135 GCT>ACT [Ala>Thr] | HGVS Name: | HBB:c.406G>A |
| Hb Name: | Hb Calvino | Protein Info: | β 135(H13) Ala>Thr |
Context nucleotide sequence:
GCAGGCTGCCTATCAGAAAGTGGTG [G/A] CTGGTGTGGCTAATGCCCTGGCCCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVTGVANALAHKYH
Also known as:
Comments: Silent HBB Variant Found in Coexistence with α-Thalassaemia (-α3.7 homozygosity).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71980 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Marsella M, Salvagno G, Dolcini B, Ferlini A, Ravani A, Harteveld CL, Giordano PC, Borgna-Pignatti C, Characterization of Hb Calvino (HBB: c.406G > A): A New Silent β-Globin Gene Variant Found in Coexistence with α-Thalassemia in a Family of African Origin., Hemoglobin , 38(5), 369-72, 2014
Created on 2014-10-09 16:59:53,
Last reviewed on 2018-02-21 17:25:05 (Show full history)
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