IthaID: 2957
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS I-117 G>A | HGVS Name: | HBA2:c.96-1G>A |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CACCCCTCACTCTGCTTCTCCCCGCA [G/A] GATGTTCCTGTCCTTCCCCACCAC (Strand: +)
Also known as:
Comments: This G>A replacement occurs in the acceptor splicing site which interferes with the correct RNA splicing. A gene conversion event probably explains the fact that exactly the same mutation is present on the HBA1 and HBA2 genes both. Family studies would allow to confirm it and to know if these two mutations are in cis or in trans.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33987 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Consensus splice site (mRNA Processing) |
| Ethnic Origin: | Indian |
| 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2016-08-23 11:37:51,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-23 11:37:51 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-04-24 11:43:02