IthaID: 2519
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 127 AAG>TAG [Lys>STOP] | HGVS Name: | HBA2:c.382A>T |
| Hb Name: | N/A | Protein Info: | α2 127(H10) Lys>stop |
Context nucleotide sequence:
CCCTGCGGTGCACGCCTCCCTGGAC [A/T] AGTTCCTGGCTTCTGTGAGCACCGT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDX
Also known as:
Comments: Variant was found in a heterozygous state in four unrelated individuals of Lor ethnicity in Khuzestan province during routine screening. They all presented with moderate anaemia, mild microcytosis and moderate hypochromia. No abnormal haemoglobin was detected by cellulose acetate electrophoresis.
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: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34416 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Iranian |
| 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
- Hamid M, Bokharaei Merci H, Galehdari H, Saberi AH, Kaikhaei B, Mohammadi-Anaei M, Ahmadzadeh A, Shariati G, A Novel Alpha-thalassemia Nonsense Mutation in HBA2: C.382 A > T globin Gene., Arch Iran Med , 17(7), 475-6, 2014 PubMed
Created on 2014-07-15 09:44:47,
Last reviewed on 2022-07-12 12:30:50 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-07-15 09:44:47 | The IthaGenes Curation Team | Created |
| 2 | 2020-01-21 08:44:16 | The IthaGenes Curation Team | Reviewed. Common name edited, Protein name corrected, Protein info added. |
| 3 | 2020-01-21 08:44:31 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 4 | 2022-07-12 12:30:50 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07