IthaID: 363
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | IVS I-116 GCAGGA>GCGGGA acceptor | HGVS Name: | HBA2:c.96-2A>G |
| Hb Name: | N/A | Protein Info: | α2 nt 248 A>G |
Context nucleotide sequence:
CACCCCTCACTCTGCTTCTCCCCGC [A/G] GGATGTTCCTGTCCTTCCCCACCAC (Strand: +)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 33986 |
| 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: | North European, Dutch, Chinese |
| 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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Frequencies
Publications / Origin
- Harteveld CL, Heister JG, Giordano PC, Batelaan D, von Delft P, Haak HL, Wijermans PW, Losekoot M, Bernini LF, An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families., British journal of haematology, 95(3), 461-6, 1996 PubMed
- He XH, Zhang R, Mai GX, Ren LR, Li DZ, First Report of a Case with Nondeletional Hb H Disease Caused by IVS-I-116 (A>G) of the α2-Globin Gene., Hemoglobin, 42(0), 344-346, 2018 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-08-25 12:41:33 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-08 17:23:03 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2021-08-25 12:41:33 | The IthaGenes Curation Team | Reviewed. Ethnicity and reference added, |
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IthaGenes was last updated on 2024-04-18 10:10:45