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.

External Links

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

  1. 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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