IthaID: 3883
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS I-1 G>C | HGVS Name: | HBD:c.92+1G>C |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
AGTTGGTGGTGAGGCCCTGGGCAG [G>C] TTGGTATCAAGGTTATAAGAGAGG (Strand: -)
Also known as:
Comments: Found in a heterozygous state. This mutation likely activates a cryptic acceptor site (actttttctcagCT) at exon 2 (c.253) with a HSF score of 87.41. In this case, the reported mutation would produce an abnormal mRNA resulting in reduced HbA2 level. There may be some possibility that in IVS Ӏ-1 G>C, exon 1 joins directly to exon 3 by removing IVS Ӏ, exon 2, and IVS ӀӀ by splicing.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δ-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63275 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Splice junction (mRNA Processing) |
| Ethnic Origin: | Tunisian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Kasmi C, Amri Y, Hadj-Fredj S, Oueslati S, Dabboussi M, Mahjoub R, Hammami S, Aljane I, Mami FB, Jamoussi H, Messaoud T, Bibi A, Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations., Mol Biol Rep, 48(8), 5923-5933, 2021 PubMed
Created on 2021-12-29 15:38:15,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-12-29 15:38:15 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07