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
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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-08-21 11:25:17 (Show full history)
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