IthaID: 3077

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -83 G>A HGVS Name: HBB:c.-133G>A
Hb Name: N/A Protein Info: N/A

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70462
Size: 1 bp
Located at: β
Specific Location: Promoter 0


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Tunisian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Cadet E, Foulon K, Claisse JF, Rochette J, First identification of a point mutation at position -83 (G>A) of the beta-globin gene promoter., Hemoglobin, 33(3), 274-8, 2009 PubMed
  2. Douzi K, Moumni I, Zorai A, Ben Mustapha M, Ben Mansour IM, Dorra C, Salem A, Two new β+ -thalassemia mutation [β -56 (G → C); HBBc. -106 G → C] and [β -83 (G → A); HBBc. -133 G → A] described among the Tunisian population., Am. J. Hum. Biol. , 27(5), 716-9, 2015 PubMed
Created on 2016-09-08 19:22:20, Last reviewed on 2019-08-09 09:46:04 (Show full history)

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