IthaID: 428
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | 3'UTR -16 bp | HGVS Name: | HBA2:c.*74_*89delCCTTCCTGGTCTTTGA |
| Hb Name: | N/A | Protein Info: | α2 nts 799 - 814 deleted |
Context nucleotide sequence:
GCCCTCCTCCCCTCCTTGCACCGGC [-/CCTTCCTGGTCTTTGA] ATAAAGTCTGAGTGGGCAGCAGCCT (Strand: +)
Also known as:
Comments: 3'UTR -16 bp (giving rise to CATAAA)
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α+/α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34537 |
| Size: | 16 bp |
| Located at: | α2 |
| Specific Location: | 3'UTR, Poly(A) |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Other 3'UTR site (mRNA Processing) |
| Ethnic Origin: | Arab |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- Tamary H, Klinger G, Shalmon L, Attias D, Fortina P, Kobayashi M, Surrey S, Zaizov R, alpha-thalassemia caused by a 16 bp deletion in the 3' untranslated region of the alpha 2-globin gene including the first nucleotide of the poly A signal sequence., Hemoglobin, 21(2), 121-30, 1997 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-07-14 11:54:28 (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 17:27:30 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-08 17:43:39 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2014-04-08 17:45:11 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2023-07-14 11:54:28 | The IthaGenes Curation Team | Reviewed. Common name |
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IthaGenes was last updated on 2024-11-20 13:24:07