IthaID: 3863
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 3'UTR +1 G>A | HGVS Name: | HBB:c.*1G>A |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TGCCCTGGCCCACAAGTATCACTAA [G/A] CTCGCTTTCTTGCTGTCCAATTTCTA (Strand: -)
Comments: Found in a 15-year-old female in a 7-year study evaluating the relationship between Hb indices and thalassemia mutations.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72019 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 3'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Other 3'UTR site (mRNA Processing) |
| Ethnic Origin: | Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Arpaci A, Gul BU, Ozcan O, Ilhan G, El C, Dirican E, Elmacioglu S, Kaya H, Presentation of two new mutations in the 3'untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey., Ann Hematol, 100(6), 1429-1438, 2021
- Targholi S, Noormohammadi Z, Tafsiri E, Karimipoor M, Evaluation of the Function of a Rare Variant in the 3'-Untranslated Region of the β-Globin Gene., Hemoglobin, 46(6), 312-316, 2022
Created on 2021-09-28 12:21:13,
Last reviewed on 2023-07-04 11:45:53 (Show full history)
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