IthaID: 907
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 30 AGG>AGT [Arg>Ser] | HGVS Name: | HBB:c.93G>T |
| Hb Name: | Hb Tacoma | Protein Info: | β 30(B12) Arg>Ser |
Context nucleotide sequence:
TATTGGTCTATTTTCCCACCCTTAG [G>T] CTGCTGGTGGTCTACCCTTGGACCC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGSLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Arg>Ser substitution at position β30 (B12), which forms a site of the α1β1 interchain contact. Alteration of the α1β1 interface disrupts dimer formation with subsequent accumulation of free globin subunits. Slightly unstable in the isopropanol test. Normal haematological findings.
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: | 70817 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | American | Finnish | Russian | Swedish | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 339 | Hb Tacoma | β | D-10 | Dual Kit Program | 67.5 | 1.7 | [PDF] | ||
| 340 | Hb Tacoma | β | VARIANT | β-thal Short Program | 72.1 | 2.41 | Heterozygote carriers are clinically normal. | [PDF] | |
| 341 | Hb Tacoma | β | VARIANT II | β-thal Short Program | 71.4 | 2.41 | Heterozygote carriers are clinically normal. | [PDF] | |
| 342 | Hb Tacoma | β | VARIANT II | Dual Kit Program | 67.1 | 1.77 | Heterozygote carriers are clinically normal. | [PDF] |
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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Frequencies
Publications / Origin
- Harano K, Harano T, Ueda S, Mori H, Shibata S, Takeda I, Tsunematsu T, Hb Tacoma [beta 30(B12) Arg----Ser], a slightly unstable hemoglobin variant found in Japan., Hemoglobin, 9(6), 635-9, 1985 PubMed
- Landin B, Jeppsson JO, Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis., Hemoglobin, 17(4), 303-18, 1993 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-02-21 15:14:15 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2019-06-24 12:45:51 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 4 | 2019-06-24 12:54:32 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 5 | 2023-02-21 15:14:15 | The IthaGenes Curation Team | Reviewed. Link addded. |
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IthaGenes was last updated on 2024-11-20 13:24:07