IthaID: 3464
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CAP +3 A>T | HGVS Name: | HBB:c.-48A>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
AGGGCAGAGCCATCTATTGCTTAC [A>T] TTTGCTTCTGACACAACTGTGTT (Strand: -)
Also known as:
Comments: The nucleotide +3(A) from the CAP site is part of the initiator element (consensus sequence: Py-Py(C)-A+1-N-T/A-Py-Py) and an overlapping E-box (consensus sequence: CANNTG), possibly contributing to the efficient assembly of preinitiation complex on the β-globin gene. Co-inherited with 92+1G>A mutation in a case of β-thalassemia intermedia. Source: Romanian Biotechnological Letters, Vol. 16, No. 2, 2011
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β++ (silent) |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70547 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 5'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | 5'UTR (Transcription) |
| Ethnic Origin: | Romanian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Agouti I, Bennani M, Nezri M, Levy N, Badens C, Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene., Eur. J. Haematol. , 80(4), 346-50, 2008
Created on 2019-09-27 11:55:33,
Last reviewed on 2021-08-27 12:04:31 (Show full history)
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