IthaID: 3483
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 121 GAA>-AA | HGVS Name: | HBB:c.364delG |
| Hb Name: | Hb Mahasarakham | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Single nucleotide deletion (-G) generating a frameshift, which results in an elongated β-globin and a modified C-terminal sequence. Found as a compound heterozygote with Hb E variant in a 2-year-old proband with transfusion-dependent beta-thalassaemia.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Dominant |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 6394 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Nuinoon M, Thipthara O, Fucharoen S, Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (: c.364delG) and Hb E (: c.79G>A) with Heterozygous α-Thalassemia-2., Hemoglobin, 43(1), 52-55, 2019
Created on 2019-11-04 14:45:36,
Last reviewed on 2019-11-04 14:55:47 (Show full history)
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