IthaID: 3613
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 129 CTG>CGG [Leu>Arg] | HGVS Name: | HBA2:c.389T>G |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GTGCACGCCTCCCTGGACAAGTTCC [T>G] GGCTTCTGTGAGCACCGTGCTGACC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFRASVSTVLTSKYR
Also known as:
Comments: Detected during thalassemia screening in one person originating from Mazandaran province.
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: | 34423 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Hashemi-Soteh SMB, Karami H, Mousavi SS, Farazmandfar T, Tamadoni A, Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran., J. Clin. Lab. Anal., 34(1), e23018, 2020
Created on 2020-08-10 12:22:28,
Last reviewed on (Show full history)
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