IthaID: 3852
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 93 GTG>ATG [Val>Met] | HGVS Name: | HBA1:c.280G>A |
| Hb Name: | Hb Qingcheng | Protein Info: | α1 93(FG5) Val>Met |
Context nucleotide sequence:
GACCTGCACGCGCACAAGCTTCGG [G/A] TGGACCCGGTCAACTTCAAGGTGA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRMDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a 31-year-old female on a pre-marriage thalassemia screening program. Next-generation sequencing (long-range PCR and deep sequencing) revealed that the proband carried a mosaic variant with a level of 18.46%. Hb Qingcheng was not detected by HPLC and CE analysis assuming an unstable variant leading to α+-thal phenotype in the mosaic individual.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37976 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
- Wang RY, Jiang F, Xu LL, Li DZ, Mild α-Thalassemia Caused by a Mosaic α-Globin Gene Mutation., Hemoglobin, 45(2), 140-141, 2021 PubMed
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-09-17 14:18:20 | The IthaGenes Curation Team | Created |
| 2 | 2022-08-24 10:53:57 | The IthaGenes Curation Team | Reviewed. Comment corrected. |