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.

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: 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

  1. 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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