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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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).
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
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)
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