IthaID: 2422
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 78 CTG>GTG [Leu>Val] | HGVS Name: | HBB:c.235C>G |
| Hb Name: | Hb Ullevaal | Protein Info: | β 78(EF2) Leu>Val |
Also known as:
Comments: Hb Ullevaal is located at an external position of the tertiary structure of the beta-globin molecule. Different HPLC methods produce different findings; no abnormal peak with VARIANT using the β-Thalassemia Short Program, but presented as an additional peak to the right of Hb A1c using the Tosoh G7 apparatus in variant mode. Interferes with Hb A1c measurement. No abnormal peak using CE (CapillaryS II).
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: | 70959 |
| 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: | Bosnian |
| 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
- Grimholt RM, Sudmann ÅA, Piehler AP, Urdal P, Klingenberg O, Hb Ullevaal [β78(EF2)Leu→Val; HBB: c.235C>G], a new hemoglobin variant interfering with Hb A1c measurement using a cation exchange high performance liquid chromatography method., Hemoglobin , 38(2), 130-2, 2014 PubMed
Created on 2014-05-29 16:13:56,
Last reviewed on 2024-02-06 09:49:48 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-05-29 16:13:56 | The IthaGenes Curation Team | Created |
| 2 | 2024-02-06 09:49:48 | The IthaGenes Curation Team | Reviewed. Comment added, Mode of inheritance corrected |
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IthaGenes was last updated on 2024-11-20 13:24:07