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
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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2015-12-07 12:17:48 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.