IthaID: 893
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 26 GAG>GGG | HGVS Name: | HBB:c.80A>G |
| Hb Name: | Hb Aubenas | Protein Info: | β 26(B8) Glu>Gly |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GTGAACGTGGATGAAGTTGGTGGTG [A>G] GGCCCTGGGCAGGTTGGTATCAAGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGGALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Comments: Found in a proband of French origin and in one of her two siblings without haematological or clinical features. Parents refused testing. Blood smears showed anisocytosis. The abnormal Hb was revealed by isoelectrofocusing (IEF), cellulose acetate electrophoresis and cation exchange HPLC. Slightly unstable as detected by the isopropanol test. Normal α/β biosynthetic ratio. In contrast to HbE (HBB:c.79G>A), this base substitution does not lead to a consensus nt sequence for splicing.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70674 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | French, Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Lacan P, Francina A, Promé D, Delaunay J, Galactéros F, Wajcman H, Hb Aubenas [beta 62(B8)Glu-->Gly]: a new variant normally synthesized, affecting the same codon as in Hb E., Hemoglobin, 20(2), 113-24, 1996
- Jalilian M, Azizi Jalilian F, Ahmadi L, Amini R, Esfehani H, Sosanian M, Rabbani B, Maleki M, Mahdieh N, The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran., Hemoglobin, 41(1), 61-64, 2017