IthaID: 25
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -29 (A>G) | HGVS Name: | HBB:c.-79A>G |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GAGGGCAGGAGCCAGGGCTGGGCAT [A/G] AAAGTCAGGGCAGAGCCATCTATTG (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70516 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | African-American, Chinese |
| Molecular mechanism: | TATAA box (HBB) |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Antonarakis SE, Irkin SH, Cheng TC, Scott AF, Sexton JP, Trusko SP, Charache S, Kazazian HH, beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site., Proceedings of the National Academy of Sciences of the United States of America, 81(4), 1154-8, 1984
- Huang S, Wong C, Antonarakis SE, Ro-lien T, Lo WH, Kazazian HH, The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation., Human genetics, 74(2), 162-4, 1986
Created on 2010-06-16 16:13:14,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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