IthaID: 257
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 128/129 (-4, +5, -11 bp) >153aa | HGVS Name: | HBB:c.[385_388delinsCCACA;397_407delAAAGTGGTGGC] |
| Hb Name: | N/A | Protein Info: | β 128-129 (-GCTG); modified C-terminal sequence AND beta 132 - 135 (-AAAGTGGTGGC); modified C-terminal sequence AND beta 128(+CCACA); modified C-terminal sequence |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | β0 Dominant |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71959 |
| Size: | 11 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Irish |
| Molecular mechanism: | Altered α1β1 interface |
| Inheritance: | Dominant |
| 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
- Weatherall DJ, Clegg JB, Knox-Macaulay HH, Bunch C, Hopkins CR, Temperley IJ, A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia., Br. J. Haematol. , 24(6), 681-702, 1973 PubMed
- Thein SL, Winichagoon P, Hesketh C, Best S, Fucharoen S, Wasi P, Weatherall DJ, The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis., American journal of human genetics, 47(3), 369-75, 1990 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2015-12-07 12:17:48 (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 15:15:00 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2015-12-07 12:17:48 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07