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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
AGTTGGTGGTGAGGCCCTGGGCAG [G>C] TTGGTATCAAGGTTATAAGAGAGG (Strand: -)
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.
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
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
Created on 2021-12-29 15:38:15,
Last reviewed on (Show full history)
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