IthaID: 3400
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 147 TAA>CAA [Stop>Gln] | HGVS Name: | HBB:c.442T>C |
| Hb Name: | Hb Zunyi | Protein Info: | β 147, Stop>Gln; modified C-terminal sequence: (147)Gln-Ala-Arg-Phe-Leu-Ala-Val-Gln-Phe-Leu-Leu- Lys-Val-Pro-Leu-Phe-Pro-Lys-Ser-Asn-(167)Tyr-COOH |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTAATGCCCTGGCCCACAAGTATCAC [T/C] AAGCTCGCTTTCTTGCTGTCCAA (Strand: -)
Comments: Reported as a de novo mutation in a young transfusion-dependent patient with severe hemolytic anaemia. This mutation results in a stop-codon substitution to a glutamine residue and an increase of 21 amino-acids in the beta-globin chain. Leads to a dominant beta-thalassemia state according to this case report.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Dominant |
| Stability: | Hyperunstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72016 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Su Q, Chen S, Wu L, Tian R, Yang X, Huang X, Chen Y, Peng Z, Chen J, Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln; : c.442T>C)] on the β-Globin Gene., Hemoglobin, 43(1), 7-11, 2019
Created on 2019-04-11 16:33:29,
Last reviewed on 2023-07-03 15:36:03 (Show full history)
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