IthaID: 131
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 33-35 (-TGGTCT) | HGVS Name: | HBB:c.101_106delTGGTCT |
| Hb Name: | Hb Dresden | Protein Info: | β 33(B15) - 35(C1) Val-Val-Tyr->0 AND inserted Asp |
Context nucleotide sequence:
TATTTTCCCACCCTTAGGCTGCTGG [-/TGGTCT] ACCCTTGGACCCAGAGGTTCTTTGA (Strand: -)
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: | Thalassaemia dominant 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: | 70825 |
| Size: | 6 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | German |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Vetter B, Neu-Yilik G, Kohne E, Arnold R, Sinha P, Gaedicke G, Ivancevic V, Kulozik AE, Dominant beta-thalassaemia: a highly unstable haemoglobin is caused by a novel 6 bp deletion of the beta-globin gene., British journal of haematology, 108(1), 176-81, 2000
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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