IthaID: 3745
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS I-1 G>A | HGVS Name: | HBA2:c.95+1G>A |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GAGTATGGTGCGGAGGCCCTGGAGAG [G/A] TGAGGCTCCCTCCCCTGCTCCGACCCG (Strand: +)
Also known as:
Comments: Found in patients with microcytosis and hypochromia. In the presence of the G>A mutation, a cryptic splice site 49 bp upstream of the exon1/intron 1 boundary is activated and a premature stop codon is introduced between codons 48 and 49 in exon 2. As this premature stop codon is located 152 nts upstream of the last exon-exon junction, the mature mRNA may be degraded by the nonsense mediated decay mechanism or further processed to produce a truncated nonfunctional protein.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33871 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Cryptic splice site (mRNA Processing), Frameshift (Translation) |
| Ethnic Origin: | Canadian, Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Waye JS, Eng B, Dutly F, Frischknecht H, alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T)., Hemoglobin, 33(6), 519-22, 2009
- Qadah T, Finlayson J, Ghassemifar R, In vitro characterization of the α-thalassemia point mutation HBA2:c.95+1G>A [IVS-I-1(G>A) (α2)]., Hemoglobin, 36(1), 38-46, 2012
Created on 2021-02-17 16:56:30,
Last reviewed on 2022-07-12 11:40:09 (Show full history)
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