IthaID: 263
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 134-137 (-12, +6 bp) Val-Ala-Gly-Val to Gly-Arg | HGVS Name: | HBB:c.404_413delinsGCAG |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GTGCAGGCTGCCTATCAGAAAGTGG [GCAG/TGGCT] GGCTAATGCCCTGGCCCACAAGTAT (Strand: -)
Also known as:
Comments: Heterozygous individual with moderate anemia, marked microcytosis and hypochromia and large Heinz bodies.
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: | Dominant |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71978 |
| Size: | 12 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | Portuguese |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Oner R, Oner C, Wilson JB, Tamagnini GP, Ribeiro LM, Huisman TH, Dominant beta-thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion of (G)GCAG(G) in codons 134, 135, 136 and 137 of the beta-globin gene., British journal of haematology, 79(2), 306-10, 1991
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-08-09 09:59:05 (Show full history)
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