IthaID: 89
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 26 (GAG>TAG) | HGVS Name: | HBB:c.79G>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GGTGAACGTGGATGAAGTTGGTGGT [A/C/G/T] AGGCCCTGGGCAGGTTGGTATCAAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGX
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70673 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Fucharoen G, Fucharoen S, Jetsrisuparb A, Fukumaki Y, Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens., Biochemical and biophysical research communications, 170(2), 698-704, 1990
Created on 2010-06-16 16:13:14,
Last reviewed on 2024-03-07 11:00:56 (Show full history)
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