IthaID: 4186
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 82 AAG>TAG [Lys>STOP] | HGVS Name: | HBB:c.247A>T |
| Hb Name: | N/A | Protein Info: | β 82(EF6) Lys>Stop |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TGGCCTGGCTCACCTGGACAACCTC [A/T] AGGGCACCTTTGCCACACTGAGTGA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNL*
Comments: It was first identified in a 6-year-old Indian girl in the homozygous state, who presented with abnormal haematological indices and transfusion-dependent anaemia beginning at 5 months of age. Haemoglobin electrophoresis revealed a markedly elevated Hb F level (30.4%; PMID: 20136848). In a subsequent report, the same variant was identified in a 28-year-old Pakistani female and her 10-year-old son. The boy, diagnosed with thalassaemia intermedia, exhibited hypochromic microcytic anaemia, intermittent jaundice, and pallor from the age of 2 years. He required only two blood transfusions, and abdominal ultrasound revealed hepatosplenomegaly. Genetic analysis demonstrated inheritance of the nonsense variant in combination with the IVS II-666 (C>T) polymorphism (IthaID: 2056). HPLC analysis showed elevated levels of Hb A2 (7.0%) and Hb F (3.6%) in the boy, and increased Hb A2 (6.6%) in the mother (PMID: 21054815). More recently, the HBB:c.247A>T variant has been reported in a heterozygous individual of Central European origin presenting with mild hypochromic microcytic anaemia. Haemoglobin analysis revealed elevated Hb A2 levels, consistent with a β-thalassaemia trait phenotype (Contributor: Brintrup 2026).
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70971 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Indian, Pakistani, Central European |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Angalena R, Prabitha KN, Chaudhary AK, Bashyam MD, Jain S, Dalal AB, A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major., Int J Lab Hematol, 32(5), 548-9, 2010
- Kumar R, Agarwal S, Nonsense mutation of β-globin gene at codon 82 (AAG→TAG) or HBB:C247 A→T with polymorphism: cause of thalassemia intermedia?, Int J Lab Hematol, 33(2), e3-4, 2011
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Brintrup, Joaquin | 2026-05-04 | Report of an update. |