IthaID: 2460
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
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Common Name: | Init CD ATG>AGG [Met>Arg] | HGVS Name: | HBA2:c.2T>G |
Hb Name: | N/A | Protein Info: | α2 Initiation codon Met>Arg |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α⁺ |
Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
Chromosome: | 16 |
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Locus: | NG_000006.1 |
Locus Location: | 33777 |
Size: | 1 bp |
Located at: | α2 |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
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Effect on Gene/Protein Function: | Initiation 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
- Zandian K, Nateghi J, Keikhaie B, Pedram M, Hafezi-Nejad N, Hadavi V, Oberkanins C, Azarkeivan A, Law HY, Najmabadi H, alpha-thalassemia mutations in Khuzestan Province, Southwest Iran., Hemoglobin , 32(6), 546-52, 2008 PubMed
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2014-06-03 12:59:24,
Last reviewed on 2023-07-03 10:07:27 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2014-06-03 12:59:24 | The IthaGenes Curation Team | Created |
2 | 2014-06-03 14:07:49 | The IthaGenes Curation Team | Reviewed. Typo in common name corrected. |
3 | 2016-09-01 11:29:47 | The IthaGenes Curation Team | Reviewed. Reference added. |
4 | 2022-07-12 12:51:35 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
5 | 2023-07-03 10:07:27 | The IthaGenes Curation Team | Reviewed. Effect corrected |
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IthaGenes was last updated on 2024-12-12 10:33:52