IthaID: 2967


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: -22 C>T HGVS Name: HBA2:c.-59C>T
Hb Name: N/A Protein Info: α2 nt -22 C>T

Context nucleotide sequence:
GCCCCCGCGCCCCAAGCATAAAC [C>T] CTGGCGCGCTCGCGGGCCGGCA (Strand: +)

Also known as:

Comments: Found as a heterozygote with normal haematology and biochemical parameters. Point-mutation located at the core promoter region affecting the last nucleotide of the TATA box consensus sequence. Functional studies showed that it can cause up to 54% reduction in the transcriptional activity.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33717
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

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
Created on 2016-08-23 15:22:13, Last reviewed on 2017-07-31 12:08:30 (Show full history)

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