IthaID: 2988

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: -54 G>A HGVS Name: HBA2:c.-91G>A
Hb Name: N/A Protein Info: α2 nt -54 G>A

Context nucleotide sequence:

Also known as:

Comments: Found as a heterozygote with mild microcytosis. Point-mutation located at the proximal promoter region between two regulatory motifs recognised by the transcription factors Sp1 (Specificity Protein 1) and α-IRP (α-inverted repeat protein). Functional studies showed that it can cause up to 36% reduction in the transcriptional activity.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33685
Size: 1 bp
Located at: α2
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Qadah T, Finlayson J, Dennis M, Ghassemifar R, Molecular and cellular analysis of three novel alpha2-globin gene promoter mutations [HBA2: c.-59C>T], [HBA2: c.-81C>A] and [HBA2: c.-91G>A] reveal varying patterns of transcriptional and translational activities., Pathology , 46(1), 46-52, 2014 PubMed
Created on 2016-08-23 17:11:10, Last reviewed on 2017-07-31 12:12:32 (Show full history)

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