IthaID: 94
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 28 CTG>CGG [Leu >Arg] | HGVS Name: | HBB:c.86T>G |
| Hb Name: | Hb Chesterfield | Protein Info: | β 28(B10) Leu>Arg |
Context nucleotide sequence:
GTGGATGAAGTTGGTGGTGAGGCCC [T>G] GGGCAGGTTGGTATCAAGGTTACAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEARGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: β28 Leu>Arg change creates an internal ionized group; such groups surround themselves with water molecules which makes them so bulky that the tertiary fold of the protein bursts apart, preventing the abnormal β chain from combining with α chains to form a Hb tetramer, leading to ineffective erythropoiesis [PMID: 1581206]
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Thalassaemia dominant Dominant |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70680 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | English |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Thein SL, Best S, Sharpe J, Paul B, Clark DJ, Brown MJ, Hemoglobin Chesterfield (beta 28 Leu----Arg) produces the phenotype of inclusion body beta thalassemia., Blood, 77(12), 2791-3, 1991
- Thein SL, Dominant beta thalassaemia: molecular basis and pathophysiology., Br J Haematol, 80(3), 273-7, 1992
Created on 2010-06-16 16:13:14,
Last reviewed on 2022-11-30 12:32:18 (Show full history)
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