IthaID: 2958



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 7/8 (+G) HGVS Name: HBB:c.24_25insG
Hb Name: N/A Protein Info: β 8(+G); modified C-terminal sequence: (8)Glu-Val-Cys-Arg-Tyr-Cys-Pro-Val-Gly-Gln-Gly-Glu-Arg-Gly-(22)COOH

Comments: The mutation causes a shift of the open globin reading frame, which leads to the development of a terminal codon in codon 22. The thalassaemic allele is associated with the mediterranean haplotype IX. The mutation presents with beta0-thalassaemia minor and slightly elevated HbF.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70619
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Slovakian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Kynclová E, Divoký V, Kovaríková L, Melichárková R, Indráková J, Divoká M, Hammerová T, Sakalová A, Hudecek J, Indrák K, [New beta0-thalassaemic insertion mutation (CD 7/8, +G) in a Slovak family, associated with the Mediterranean haplotype IX]., Vnitr Lek , 45(3), 151-4, 1999 PubMed
  2. Divoka M, Partschova M, Kucerova J, Mojzikova R, Cermak J, Pospisilova D, Fabryova V, Prochazkova D, Indrak K, Divoky V, Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations., Hemoglobin , 40(3), 156-62, 2016 PubMed
Created on 2016-08-23 11:50:36, Last reviewed on 2016-09-06 16:08:00 (Show full history)

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