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IthaID: 3023
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 35 TAC>TAG | HGVS Name: | HBB:c.108C>G |
Hb Name: | N/A | Protein Info: | N/A |
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVX
Also known as:
Comments: The mutation creates a premature stop codon, and thus causes formation of a non-functional Hb.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
---|---|
Hemoglobinopathy Subgroup: | β-thalassaemia |
Allele Phenotype: | β0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 70832 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | Nonsense codon (Translation) |
Ethnic Origin: | Han Chinese |
Molecular mechanism: | Altered α1β1 interface |
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.
Publications / Origin
- Wang W, Wang Q, Tao T, Sun A, Ruan C, Chen S, Identification of Two Novel β-Thalassemia Mutations (HBB: c.335-346del and HBB: c.108 C > G) in Han Chinese., Hemoglobin , 39(5), 359-61, 2015
Created on 2016-08-25 17:16:29,
Last reviewed on 2016-08-25 17:28:17 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2016-08-25 17:16:29 | The IthaGenes Curation Team | Created |
2 | 2016-08-25 17:17:06 | The IthaGenes Curation Team | Reviewed. |
3 | 2016-08-25 17:27:31 | The IthaGenes Curation Team | Reviewed. |
4 | 2016-08-25 17:28:17 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-07-25 14:01:03