IthaID: 3605
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 3'UTR +132 C>T | HGVS Name: | HBB:c.*132C>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GCCTAATAAAAAACATTTATTTTCATTG [C/T] AATGATGTATTTAAATTATTTCTGAATAT (Strand: -)
Also known as:
Comments: The mutation is located in the 3' UTR of the β-globin gene. In heterozygous carriers, the mutation causes a silent phenotype with borderline to normal MCV and HbA2 levels, while in compound heterozygosity with severe β-thal mutations; it leads to a mild intermedia β-thal phenotype.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 72150 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 3'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Thai, Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Bilgen T, Clark OA, Ozturk Z, Akif Yesilipek M, Keser I, Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia., Int J Lab Hematol, 35(1), 26-30, 2013
- Sripusanapan A, Phusua A, Fanhchaksai K, Charoenkwan P, Compound heterozygosity of a silent beta-thalassemia mutation at the 3'-untranslated region (HBB: c.*132 C>T) and beta-zero thalassemia results in thalassemia intermedia., Pediatr Blood Cancer, 67(4), e28157, 2020
Created on 2020-07-16 10:43:03,
Last reviewed on 2023-03-21 10:17:51 (Show full history)
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