IthaID: 2519
Names and Sequences
| Functionality: | Globin gene causative mutation | ||
|---|---|---|---|
| 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.
External Links
No available links
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34416 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Iranian |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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 2020-01-21 08:44:31 (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. |
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IthaGenes was last updated on 2020-02-19 17:41:44