IthaID: 3944
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 64 (+G) | HGVS Name: | HBB:c.194dup |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GCAACCCTAAGGTGAAGGCTCATG [-/G] CAAGAAAGTGCTCGGTGCCTTTAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGQESARCL*
Also known as:
Comments: Found as a novel mutation in a 46-year-old male in compound heterozygosity with HbE and in association with anti-3.7 and anti-4.2 (six α genes). The C duplication causes a frameshift that introduces a premature stop codon eight amino acids further down the new reading frame (codon 72 of the HBB gene).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70918 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Chinese |
| 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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Publications / Origin
- Huang J, Ding L, Chen J, Chen S, Tian P, Xie J, Huang X, Xin X, Characterization of a novel HBB:c.194dup variant of the -globin gene combined with six alpha genes., J Int Med Res, 50(5), 3000605221099013, 2022 PubMed
Created on 2022-07-14 10:43:10,
Last reviewed on 2022-07-14 10:50:45 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2022-07-14 10:43:10 | The IthaGenes Curation Team | Created |
| 2 | 2022-07-14 10:50:45 | The IthaGenes Curation Team | Reviewed. Protein info added. |
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IthaGenes was last updated on 2024-11-20 13:24:07