IthaID: 2442
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 93 TGT>TCT [Cys>Ser] | HGVS Name: | HBB:c.281G>C |
| Hb Name: | Hb Riesa | Protein Info: | β 93(F9) Cys>Ser |
Also known as:
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71005 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | German |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Bissé E, Hovasse A, Preisler-Adams S, Epting T, Wagner O, Kögel G, Van Dorsselaer A, Schaeffer-Reiss C, Hb Riesa or β93 (F9) Cys→Ser, a new electrophoretically silent haemoglobin variant interfering with haemoglobin A1c measurement., J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. , 879(28), 2952-6, 2011
Created on 2014-06-02 10:02:00,
Last reviewed on (Show full history)
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