IthaID: 4011
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 9 AAC>TAC [Asn>Tyr] | HGVS Name: | HBA2:c.28A>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GTGCTGTCTCCTGCCGACAAGACC [A>T] ACGTCAAGGCCGCCTGGGGTAAG (Strand: +)
Protein sequence:
MVLSPADKTYVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a girl with the features of microcytosis and hypochromasia. HbA2 level of 2.93%; no abnormal hemoglobin detected using cellulose acetate electrophoresis. Sequence variation is absent from gnomADv2.1.1.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33803 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
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
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
- Yao XY, Yu J, Chen SP, Xiao JW, Zheng QC, Liu HY, Zhang L, Xian Y, Zou L, Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China., Gene , 532(1), 120-4, 2013 PubMed
Created on 2023-01-26 11:14:24,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-01-26 11:14:24 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07