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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCAACCCTAAGGTGAAGGCTCATG [-/G] CAAGAAAGTGCTCGGTGCCTTTAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGQESARCL*
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).
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
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)
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