IthaID: 358
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS I-1 AGGT>AGAT donor | HGVS Name: | HBA1:c.95+1G>A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The splice donor site consensus sequence leads to the activation of a cryptic splice donor site 49 bp upstream of the normal site and consequently a premature stop codon between codons 48 and 49.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37675 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Consensus splice site (mRNA Processing) |
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Harteveld CL, Beijer C, van Delft P, Zanardini R, Bernini LF, Giordano PC, alpha-thalassaemia as a result of a novel splice donor site mutation of the alpha1-globin gene., British journal of haematology, 110(3), 694-8, 2000
- Viprakasit V, Ekwattanakit S, Chalaow N, Riolueang S, Wijit S, Tanyut P, Chat-Uthai N, Tachavanich K, Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G)., Acta Haematol. , 131(2), 88-94, 2014
Created on 2010-06-16 16:13:15,
Last reviewed on 2017-06-01 15:48:26 (Show full history)
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