IthaID: 150
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 43 (GAG>TAG) | HGVS Name: | HBB:c.130G>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
CTACCCTTGGACCCAGAGGTTCTTT [A/C/G/T] AGTCCTTTGGGGATCTGTCCACTCC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFX
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: | 70854 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese, Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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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Frequencies
Publications / Origin
- Atweh GF, Brickner HE, Zhu XX, Kazazian HH, Forget BG, New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo., The Journal of clinical investigation, 82(2), 557-61, 1988 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (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. |
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IthaGenes was last updated on 2024-11-20 13:24:07