IthaID: 1248
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 130 TAT>GAT | HGVS Name: | HBB:c.391T>G |
| Hb Name: | Hb Wien | Protein Info: | β 130(H8) Tyr>Asp |
Context nucleotide sequence:
ATTCACCCCACCAGTGCAGGCTGCC [G/T] ATCAGAAAGTGGTGGCTGGTGTGGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAADQKVVAGVANALAHKYH
Also known as:
Comments: Position β130 (H8) is located at an internal site in the haemoglobin molecule at the base of the haem pocket. The Tyr>Asp substitution introduces a charged residue into the interior of the molecule where normally only uncharged residues can be accommodated, thus leading to instability. Associated with hemolytic anemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71965 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Australian, German |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| 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
- Kleihauer E, Betke K, [Properties of the unstable Hb Wien], Klinische Wochenschrift, 50(19), 907-9, 1972 PubMed
- Lorkin PA, Pietschmann H, Braunsteiner H, Lehmann H, Structure of haemoglobin Wien beta 130 (H8) tyrosine-aspartic acid: an unstable haemoglobin variant., Acta Haematol, 51(6), 351-61, 1974 PubMed
- Hilbert S, Voill-Glaninger A, Höller B, Minkov M, Hemolytic anemia due to the unstable hemoglobin Wien: manifestations and long-term course in the largest pedigree identified to date., Haematologica, 105(5), e253-e255, 2020 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2023-03-21 11:16:02 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-07-02 09:28:03 | The IthaGenes Curation Team | Reviewed. Inheritance corrected. |
| 4 | 2023-03-07 16:31:15 | The IthaGenes Curation Team | Reviewed. Link added |
| 5 | 2023-03-21 11:16:02 | The IthaGenes Curation Team | Reviewed. Reference and Comment added |
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IthaGenes was last updated on 2024-12-03 11:48:06