IthaID: 394
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 103 CAC>CTC [His>Leu] | HGVS Name: | HBA2:c.311A>T |
| Hb Name: | Hb Bronovo | Protein Info: | α2 103(G10) His>Leu |
Context nucleotide sequence:
CTCTTCTCTGCACAGCTCCTAAGCC [A/G/T] CTGCCTGCTGGTGACCCTGGCCGCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSLCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34345 |
| 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: | Turkish |
| Molecular mechanism: | Altered α1β1 interface |
| 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
- Harteveld CL, Steen G, Vlasveld LT, van Delft P, Giordano PC, Hb Bronovo, a new globin gene mutation at alpha2 103 (His->Leu) associated with an alpha thalassemia phenotype., Haematologica, 91(4), 570-1, 2006 PubMed
- Mehta N, Johnston JM, Hein M, Kipp BR, Coon L, Savedra ME, Hoyer JD, He R, Rangan A, Shi M, Oliveira JL, Further Characterization of Hb Bronovo [α103(G10)His→Leu; : c.311A>T] and First Report of the Homozygous State., Hemoglobin, 44(3), 174-178, 2020 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-08-21 11:25:17 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-08-21 11:24:17 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 4 | 2020-08-21 11:25:17 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-11-20 13:24:07